#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
ACAP3	116983	broad.mit.edu	37	1	1233244	1233244	+	Silent	SNP	G	G	A	rs144855997		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:1233244G>A	ENST00000354700.5	-	14	1288	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Silent_p.I320I	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	362	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.I362I(1)|p.I320I(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGGCGGAGGCGATGCTGGCCT	0.682													g|||	1	0.000199681	0.0	0.0	5008	,	,		16287	0.001		0.0	False		,,,				2504	0.0					uc001aeb.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1084-1086)ATC>ATT		ArfGAP with coiled-coil, ankyrin repeat and PH				0,4396		0,0,2198	53.0	54.0	53.0		1086	-3.1	1.0	1	dbSNP_134	53	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous	ACAP3	NM_030649.2		0,2,6493	AA,AG,GG		0.0233,0.0,0.0154		362/835	1233244	2,12988	2198	4297	6495	SO:0001819	synonymous_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1233244G>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1086C>T	1.37:g.1233244G>A						ACAP3_uc001ady.2_Silent_p.I92I|ACAP3_uc001aea.2_Silent_p.I320I	p.I362I	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			14	1160	-			362			PH.		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	c.1086C>T	CCDS19.2																																																																																				PASS	0.682	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		10	5	10	5	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34052159	34052159	+	Silent	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:34052159C>G	ENST00000373381.4	-	46	7172	c.6996G>C	c.(6994-6996)ctG>ctC	p.L2332L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2334	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2334L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTTGCAGGTCAGAATTTCAT	0.493																																						uc001bxn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(7000-7002)CTG>CTC		CUB and Sushi multiple domains 2							112.0	102.0	105.0					1																	34052159		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34052159C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.6996G>C	1.37:g.34052159C>G						CSMD2_uc001bxm.1_Silent_p.L2332L	p.L2334L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			47	7031	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2334			Sushi 13.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.7002G>C																																																																																					PASS	0.493	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		13	25	13	25	---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38187350	38187350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:38187350C>A	ENST00000373048.4	-	11	2127	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.E710*|EPHA10_ENST00000330210.7_Nonsense_Mutation_p.E205*|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	710	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.E711*(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACAACGCCCTCCAGCCGCACG	0.652																																						uc009vvi.2																			1	Substitution - Nonsense(1)	p.L710M(1)	lung(1)	breast(4)|stomach(3)|lung(1)	8						c.(2128-2130)GAG>TAG		EPH receptor A10 isofom 3							20.0	23.0	22.0					1																	38187350		2032	4174	6206	SO:0001587	stop_gained	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38187350C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2128G>T	1.37:g.38187350C>A	ENSP00000362139:p.Glu710*					EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.E710*	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			11	2214	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	710			Cytoplasmic (Potential).|Protein kinase.		A4FU89|J3KPB5|Q6NW42	Nonsense_Mutation	SNP	ENST00000373048.4	37	c.2128G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699466	0.96802	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	.	.	.	3.85	3.85	0.44370	.	0.000000	0.33438	N	0.004901	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.2955	0.73902	0.0:1.0:0.0:0.0	.	.	.	.	X	205;710;710	.	ENSP00000330379:E205X	E	-	1	0	EPHA10	37959937	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.562000	0.82300	2.138000	0.66242	0.491000	0.48974	GAG		PASS	0.652	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		8	10	8	10	---	---	---	---
ZNF684	127396	broad.mit.edu	37	1	41006273	41006273	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:41006273C>A	ENST00000372699.3	+	3	282	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	ZNF684_ENST00000372696.3_Missense_Mutation_p.Q11K|ZNF684_ENST00000372697.3_Missense_Mutation_p.Q11K|ZNF684_ENST00000493756.1_Intron	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	11	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.Q11K(1)		breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGTGACATTCCAGGATGTGGC	0.428																																						uc001cft.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)CAG>AAG		zinc finger protein 684							180.0	156.0	164.0					1																	41006273		2203	4300	6503	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41006273C>A		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.31C>A	1.37:g.41006273C>A	ENSP00000361784:p.Gln11Lys						p.Q11K	NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		3	282	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	11			KRAB.		Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.31C>A	CCDS454.1	.	.	.	.	.	.	.	.	.	.	C	2.581	-0.297386	0.05532	.	.	ENSG00000117010	ENST00000372699;ENST00000372697;ENST00000372696	T;T;T	0.01335	5.0;5.0;5.0	3.69	2.78	0.32641	Krueppel-associated box (4);	.	.	.	.	T	0.00637	0.0021	N	0.02213	-0.635	0.24045	N	0.996068	B	0.23650	0.089	B	0.25506	0.061	T	0.45352	-0.9267	9	0.02654	T	1	.	5.0273	0.14391	0.0:0.6656:0.2177:0.1166	.	11	Q5T5D7	ZN684_HUMAN	K	11	ENSP00000361784:Q11K;ENSP00000361782:Q11K;ENSP00000361781:Q11K	ENSP00000361781:Q11K	Q	+	1	0	ZNF684	40778860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.852000	0.27764	1.141000	0.42275	0.650000	0.86243	CAG		PASS	0.428	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		5	55	5	55	---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51871588	51871588	+	Missense_Mutation	SNP	G	G	T	rs200482636		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:51871588G>T	ENST00000371733.3	-	16	1762	c.1666C>A	c.(1666-1668)Cag>Aag	p.Q556K	EPS15_ENST00000396122.4_Missense_Mutation_p.Q233K|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	556					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.Q556K(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GGAGATTCCTGGTGTATGGGC	0.423			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		3	Whole gene deletion(2)|Substitution - Missense(1)		thyroid(1)|lung(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(1666-1668)CAG>AAG		epidermal growth factor receptor pathway							187.0	164.0	172.0					1																	51871588		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51871588G>T	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1666C>A	1.37:g.51871588G>T	ENSP00000360798:p.Gln556Lys					EPS15_uc009vyz.1_Intron|EPS15_uc001csp.3_Missense_Mutation_p.Q242K	p.Q556K	NM_001981	NP_001972	P42566	EPS15_HUMAN			16	1758	-			556					B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1666C>A	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	4.621	0.115353	0.08831	.	.	ENSG00000085832	ENST00000371733;ENST00000396122	T;T	0.17528	2.27;2.87	5.4	2.43	0.29744	.	0.616333	0.12378	N	0.474139	T	0.11067	0.0270	L	0.40543	1.245	0.18873	N	0.999987	B;B	0.18461	0.011;0.028	B;B	0.18263	0.008;0.021	T	0.40572	-0.9556	10	0.06494	T	0.89	.	6.0095	0.19567	0.0728:0.1949:0.6003:0.132	.	556;242	P42566;P42566-2	EPS15_HUMAN;.	K	556;233	ENSP00000360798:Q556K;ENSP00000379428:Q233K	ENSP00000360798:Q556K	Q	-	1	0	EPS15	51644176	0.481000	0.25941	0.991000	0.47740	0.974000	0.67602	0.139000	0.16036	0.834000	0.34852	0.563000	0.77884	CAG		PASS	0.423	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		5	69	5	69	---	---	---	---
PARS2	25973	broad.mit.edu	37	1	55224198	55224198	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:55224198C>G	ENST00000371279.3	-	2	719	c.637G>C	c.(637-639)Gac>Cac	p.D213H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	213					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.D213H(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GGGGAGGAGTCAAAGGTGTAC	0.557																																						uc001cxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(637-639)GAC>CAC		prolyl-tRNA synthetase (mitochondrial)(putative)	L-Proline(DB00172)						59.0	57.0	58.0					1																	55224198		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224198C>G	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.637G>C	1.37:g.55224198C>G	ENSP00000360327:p.Asp213His						p.D213H	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN			2	720	-			213					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.637G>C	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805863	0.70682	.	.	ENSG00000162396	ENST00000371279	T	0.67345	-0.26	4.68	4.68	0.58851	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.050882	0.85682	D	0.000000	T	0.76256	0.3962	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74858	-0.3521	10	0.36615	T	0.2	-27.8187	17.8226	0.88654	0.0:1.0:0.0:0.0	.	213	Q7L3T8	SYPM_HUMAN	H	213	ENSP00000360327:D213H	ENSP00000360327:D213H	D	-	1	0	PARS2	54996786	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.620000	0.83070	2.423000	0.82170	0.563000	0.77884	GAC		PASS	0.557	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		21	28	21	28	---	---	---	---
LEPROT	54741	broad.mit.edu	37	1	65895678	65895678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:65895678G>T	ENST00000371065.4	+	3	364	c.226G>T	c.(226-228)Gga>Tga	p.G76*	LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	76					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.G76*(1)		kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTTCACTACTGGAATTGTTGT	0.448																																						uc001dcf.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(226-228)GGA>TGA		leptin receptor gene-related protein							375.0	359.0	364.0					1																	65895678		2203	4300	6503	SO:0001587	stop_gained	54741					endosome membrane|Golgi membrane|integral to plasma membrane		g.chr1:65895678G>T	Y12670	CCDS630.1, CCDS72801.1	1p31.2	2008-02-05			ENSG00000213625	ENSG00000213625			29477	protein-coding gene	gene with protein product	"""leptin receptor gene related protein"""	613461				9207021	Standard	NM_001198681		Approved	OBRGRP, OB-RGRP, VPS55, FLJ90360	uc001dcf.3	O15243	OTTHUMG00000009065	ENST00000371065.4:c.226G>T	1.37:g.65895678G>T	ENSP00000360104:p.Gly76*					LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Nonsense_Mutation_p.G85*	p.G76*	NM_017526	NP_059996	O15243	OBRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	3	315	+			76			Helical; (Potential).		Q6FHL5	Nonsense_Mutation	SNP	ENST00000371065.4	37	c.226G>T	CCDS630.1	.	.	.	.	.	.	.	.	.	.	G	37	6.121697	0.97300	.	.	ENSG00000213625	ENST00000371065	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.6758	20.2625	0.98452	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000360104:G76X	G	+	1	0	LEPROT	65668266	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.476000	0.97823	2.782000	0.95742	0.557000	0.71058	GGA		PASS	0.448	LEPROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025132.4	NM_017526		6	147	6	147	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97547958	97547958	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:97547958C>A	ENST00000370192.3	-	22	2935	c.2835G>T	c.(2833-2835)gtG>gtT	p.V945V		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	945	4Fe-4S ferredoxin-type 2. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.V945V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CAATCATAGCCACAACTTGCT	0.393																																						uc001drv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(2833-2835)GTG>GTT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						239.0	219.0	226.0					1																	97547958		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97547958C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2835G>T	1.37:g.97547958C>A							p.V945V	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	22	2972	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	945			4Fe-4S ferredoxin-type 2.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.2835G>T	CCDS30777.1																																																																																				PASS	0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		5	48	5	48	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118548056	118548056	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:118548056G>T	ENST00000336338.5	-	32	4822	c.4757C>A	c.(4756-4758)cCt>cAt	p.P1586H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1586						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.P1586H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTTCCCTCAGGATCCAGAAC	0.438																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4756-4758)CCT>CAT		sperm associated antigen 17							125.0	121.0	123.0					1																	118548056		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548056G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4757C>A	1.37:g.118548056G>T	ENSP00000337804:p.Pro1586His						p.P1586H	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4825	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1586					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4757C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122183	0.77436	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.22743	1.94	5.6	5.6	0.85130	.	0.157212	0.64402	D	0.000019	T	0.41026	0.1141	M	0.70275	2.135	0.44000	D	0.996707	D	0.89917	1.0	D	0.91635	0.999	T	0.27938	-1.0059	10	0.72032	D	0.01	.	18.3954	0.90496	0.0:0.0:1.0:0.0	.	1586	Q6Q759	SPG17_HUMAN	H	1586;66	ENSP00000337804:P1586H	ENSP00000337804:P1586H	P	-	2	0	SPAG17	118349579	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.709000	0.74665	2.624000	0.88883	0.655000	0.94253	CCT		PASS	0.438	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		5	80	5	80	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118635898	118635898	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:118635898T>A	ENST00000336338.5	-	8	1119	c.1054A>T	c.(1054-1056)Atg>Ttg	p.M352L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	352						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.M352L(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGTCATACATCAAGCAGGCA	0.373																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1054-1056)ATG>TTG		sperm associated antigen 17							85.0	76.0	79.0					1																	118635898		2203	4298	6501	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118635898T>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1054A>T	1.37:g.118635898T>A	ENSP00000337804:p.Met352Leu						p.M352L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	8	1122	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	352					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1054A>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.851849	0.32699	.	.	ENSG00000155761	ENST00000336338	T	0.41758	0.99	5.64	5.64	0.86602	.	0.132114	0.64402	D	0.000001	T	0.24812	0.0602	M	0.61703	1.905	0.30212	N	0.797677	P	0.38597	0.639	B	0.30029	0.11	T	0.27971	-1.0058	10	0.54805	T	0.06	.	15.8528	0.78947	0.0:0.0:0.0:1.0	.	352	Q6Q759	SPG17_HUMAN	L	352	ENSP00000337804:M352L	ENSP00000337804:M352L	M	-	1	0	SPAG17	118437421	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	3.840000	0.55843	2.141000	0.66446	0.482000	0.46254	ATG		PASS	0.373	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		10	13	10	13	---	---	---	---
PPIAL4G	644591	broad.mit.edu	37	1	143767766	143767766	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:143767766T>A	ENST00000419275.1	-	1	115	c.83A>T	c.(82-84)aAg>aTg	p.K28M		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	28	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K28M(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTTTGGAATCTTGTCTGCAAA	0.468																																						uc001ejt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)AAG>ATG		peptidylprolyl isomerase A (cyclophilin A)-like							144.0	134.0	137.0					1																	143767766		1568	3579	5147	SO:0001583	missense	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767766T>A		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.83A>T	1.37:g.143767766T>A	ENSP00000393845:p.Lys28Met						p.K28M	NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN			1	116	-			28			PPIase cyclophilin-type.		A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	c.83A>T	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	15.35	2.808295	0.50421	.	.	ENSG00000236334	ENST00000419275	T	0.24723	1.84	0.523	0.523	0.17060	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.341739	0.26563	U	0.023672	T	0.20292	0.0488	L	0.46614	1.455	0.21967	N	0.99945	D	0.58268	0.982	P	0.62089	0.898	T	0.03761	-1.1006	9	0.56958	D	0.05	.	.	.	.	.	28	A2BFH1	PAL4G_HUMAN	M	28	ENSP00000393845:K28M	ENSP00000393845:K28M	K	-	2	0	PPIAL4G	142559289	0.801000	0.28930	0.927000	0.36925	0.511000	0.34104	0.693000	0.25497	0.493000	0.27837	0.331000	0.21540	AAG		PASS	0.468	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		29	199	29	199	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145532206	145532206	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:145532206G>A	ENST00000369304.3	+	8	1025	c.850G>A	c.(850-852)Gag>Aag	p.E284K	ITGA10_ENST00000538811.1_Missense_Mutation_p.E153K|ITGA10_ENST00000539363.1_Missense_Mutation_p.E141K|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	284	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.E284K(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGATGGAGAGGAGCTTCCTGC	0.567																																						uc001eoa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(850-852)GAG>AAG		integrin, alpha 10 precursor							78.0	78.0	78.0					1																	145532206		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145532206G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.850G>A	1.37:g.145532206G>A	ENSP00000358310:p.Glu284Lys					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.E153K|ITGA10_uc009wiw.2_Missense_Mutation_p.E141K|ITGA10_uc010oyw.1_Missense_Mutation_p.E229K	p.E284K	NM_003637	NP_003628	O75578	ITA10_HUMAN			8	926	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		284			VWFA.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.850G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831700	0.50845	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.54675	0.56;0.56;0.56	5.2	4.28	0.50868	von Willebrand factor, type A (3);	0.457505	0.23343	N	0.049213	T	0.17152	0.0412	N	0.11064	0.09	0.47441	D	0.999425	B;B;P;B	0.37781	0.409;0.222;0.608;0.263	B;B;B;B	0.37047	0.209;0.149;0.24;0.232	T	0.06770	-1.0808	10	0.16896	T	0.51	.	13.8036	0.63216	0.0:0.1551:0.8449:0.0	.	250;153;141;284	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	K	284;250;141;153	ENSP00000358310:E284K;ENSP00000439894:E141K;ENSP00000440011:E153K	ENSP00000358310:E284K	E	+	1	0	ITGA10	144243563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	1.328000	0.45358	0.511000	0.50034	GAG		PASS	0.567	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		12	49	12	49	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281652	152281652	+	Missense_Mutation	SNP	G	G	T	rs535039957		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:152281652G>T	ENST00000368799.1	-	3	5745	c.5710C>A	c.(5710-5712)Caa>Aaa	p.Q1904K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1904	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q1904K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATGATTGTCCCTGGCCC	0.587									Ichthyosis				G|||	1	0.000199681	0.0	0.0014	5008	,	,		19320	0.0		0.0	False		,,,				2504	0.0					uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5710-5712)CAA>AAA		filaggrin							247.0	250.0	249.0					1																	152281652		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281652G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5710C>A	1.37:g.152281652G>T	ENSP00000357789:p.Gln1904Lys						p.Q1904K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5746	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1904			Ser-rich.|Filaggrin 11.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5710C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	3.416	-0.119156	0.06838	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03330	3.97	2.19	1.24	0.21308	.	.	.	.	.	T	0.02342	0.0072	M	0.66939	2.045	0.09310	N	1	P	0.43826	0.818	P	0.47705	0.555	T	0.44003	-0.9356	9	0.20046	T	0.44	.	6.7697	0.23587	0.0:0.2956:0.7044:0.0	.	1904	P20930	FILA_HUMAN	K	1904;139	ENSP00000357789:Q1904K	ENSP00000271820:Q139K	Q	-	1	0	FLG	150548276	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.320000	0.08028	0.256000	0.21614	-0.201000	0.12746	CAA		PASS	0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		51	174	51	174	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156823678	156823678	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:156823678A>G	ENST00000368195.3	-	2	899	c.503T>C	c.(502-504)gTg>gCg	p.V168A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	168					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V168A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGTTGCCCACGATGTGGTT	0.642																																						uc010pht.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(502-504)GTG>GCG		insulin receptor-related receptor precursor							74.0	63.0	67.0					1																	156823678		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823678A>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.503T>C	1.37:g.156823678A>G	ENSP00000357178:p.Val168Ala					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.V168A	p.V168A	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	757	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		168					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.503T>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.012871	0.35511	.	.	ENSG00000027644	ENST00000368195	T	0.75477	-0.94	5.11	5.11	0.69529	.	0.000000	0.41823	D	0.000816	T	0.51550	0.1681	.	.	.	0.42866	D	0.994123	B	0.30605	0.287	B	0.27500	0.08	T	0.57207	-0.7851	9	0.38643	T	0.18	.	12.8618	0.57918	1.0:0.0:0.0:0.0	.	168	P14616	INSRR_HUMAN	A	168	ENSP00000357178:V168A	ENSP00000357178:V168A	V	-	2	0	INSRR	155090302	0.984000	0.35163	0.999000	0.59377	0.948000	0.59901	3.168000	0.50801	1.928000	0.55862	0.455000	0.32223	GTG		PASS	0.642	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		5	20	5	20	---	---	---	---
LRRC71	149499	broad.mit.edu	37	1	156899076	156899076	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:156899076C>T	ENST00000337428.7	+	10	1155	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	334								p.S334F(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GCACAGCCCTCCTCCTCTCGA	0.552																																						uc001fqm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)TCC>TTC		hypothetical protein LOC149499							43.0	44.0	44.0					1																	156899076		1988	4163	6151	SO:0001583	missense	149499							g.chr1:156899076C>T	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1001C>T	1.37:g.156899076C>T	ENSP00000336661:p.Ser334Phe					C1orf92_uc001fql.2_Missense_Mutation_p.S119F	p.S334F	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN			10	1173	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		334					Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.1001C>T	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	C	9.382	1.073348	0.20147	.	.	ENSG00000160838	ENST00000337428	T	0.21932	1.98	4.22	4.22	0.49857	.	0.547893	0.16638	N	0.205752	T	0.13415	0.0325	L	0.59436	1.845	0.37502	D	0.916796	P;P	0.49447	0.697;0.924	B;B	0.41813	0.364;0.367	T	0.03981	-1.0987	10	0.51188	T	0.08	-17.2694	11.9402	0.52896	0.0:1.0:0.0:0.0	.	334;119	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	F	334	ENSP00000336661:S334F	ENSP00000336661:S334F	S	+	2	0	LRRC71	155165700	0.956000	0.32656	0.956000	0.39512	0.099000	0.18886	3.285000	0.51716	2.154000	0.67381	0.561000	0.74099	TCC		PASS	0.552	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		4	19	4	19	---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161039355	161039355	+	Silent	SNP	G	G	A	rs376993668		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:161039355G>A	ENST00000368013.3	-	1	380	c.60C>T	c.(58-60)tgC>tgT	p.C20C	ARHGAP30_ENST00000368015.1_Intron|PVRL4_ENST00000486694.1_5'Flank|ARHGAP30_ENST00000368016.3_Silent_p.C20C	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	20	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.C20C(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTGCAAGTCGCACCCAAAAA	0.637																																						uc001fxl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(58-60)TGC>TGT		Rho GTPase activating protein 30 isoform 1			,	1,4405	2.1+/-5.4	0,1,2202	100.0	90.0	94.0		60,60	-0.8	1.0	1		94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGAP30	NM_001025598.1,NM_181720.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	20/1102,20/891	161039355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161039355G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.60C>T	1.37:g.161039355G>A						ARHGAP30_uc001fxk.2_Silent_p.C20C|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	p.C20C	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		1	406	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		20			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.60C>T	CCDS30918.1																																																																																				PASS	0.637	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		22	43	22	43	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177199026	177199026	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:177199026G>A	ENST00000361539.4	+	2	326	c.14G>A	c.(13-15)tGt>tAt	p.C5Y		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	5					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.C5Y(1)									AGGTGGCAGTGTGGCACTCGG	0.652																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(13-15)TGT>TAT		family with sequence similarity 5, member B							38.0	45.0	42.0					1																	177199026		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177199026G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.14G>A	1.37:g.177199026G>A	ENSP00000354481:p.Cys5Tyr						p.C5Y	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			2	326	+			5					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.14G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797958	0.31777	.	.	ENSG00000198797	ENST00000361539	T	0.13901	2.55	5.23	5.23	0.72850	.	0.672481	0.15139	N	0.278389	T	0.15869	0.0382	L	0.40543	1.245	0.33668	D	0.610621	B	0.16802	0.019	B	0.14023	0.01	T	0.07271	-1.0781	10	0.54805	T	0.06	-1.1921	17.9632	0.89092	0.0:0.0:1.0:0.0	.	5	Q9C0B6	FAM5B_HUMAN	Y	5	ENSP00000354481:C5Y	ENSP00000354481:C5Y	C	+	2	0	FAM5B	175465649	0.758000	0.28405	0.643000	0.29450	0.360000	0.29518	4.322000	0.59215	2.596000	0.87737	0.655000	0.94253	TGT		PASS	0.652	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		6	17	6	17	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179659920	179659920	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:179659920G>T	ENST00000367614.1	+	17	3147	c.2788G>T	c.(2788-2790)Gac>Tac	p.D930Y	TDRD5_ENST00000294848.8_Missense_Mutation_p.D930Y|TDRD5_ENST00000444136.1_Missense_Mutation_p.D984Y	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	930					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.D930Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGAATCTGTAGACCAGCTGTC	0.443																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2788-2790)GAC>TAC		tudor domain containing 5							80.0	77.0	78.0					1																	179659920		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179659920G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2788G>T	1.37:g.179659920G>T	ENSP00000356586:p.Asp930Tyr					TDRD5_uc010pnp.1_Missense_Mutation_p.D984Y|TDRD5_uc001gnh.1_Missense_Mutation_p.D485Y	p.D930Y	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			17	3038	+			930					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2788G>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802190	0.50315	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.40756	2.24;2.24;2.34;1.02	5.17	5.17	0.71159	.	0.486347	0.20152	N	0.098135	T	0.54095	0.1837	L	0.50333	1.59	0.35873	D	0.828402	D;D	0.56968	0.978;0.963	P;P	0.58873	0.847;0.707	T	0.61451	-0.7060	10	0.48119	T	0.1	-21.4069	14.5359	0.67960	0.0:0.0:1.0:0.0	.	984;930	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Y	930;930;984;440	ENSP00000356586:D930Y;ENSP00000294848:D930Y;ENSP00000406052:D984Y;ENSP00000410744:D440Y	ENSP00000294848:D930Y	D	+	1	0	TDRD5	177926543	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	2.364000	0.44187	2.567000	0.86603	0.655000	0.94253	GAC		PASS	0.443	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		8	41	8	41	---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193121513	193121513	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:193121513C>A	ENST00000367435.3	+	10	1095	c.911C>A	c.(910-912)aCg>aAg	p.T304K		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	304	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.T304K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTCGTAGAAACGGAAGGCTTC	0.338																																						uc001gtb.2																			1	Substitution - Missense(1)		lung(1)	parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(910-912)ACG>AAG		parafibromin							112.0	101.0	104.0					1																	193121513		2203	4300	6503	SO:0001583	missense	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193121513C>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.911C>A	1.37:g.193121513C>A	ENSP00000356405:p.Thr304Lys						p.T304K	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			10	1154	+			304					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.911C>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835658	0.71373	.	.	ENSG00000134371	ENST00000367435	T	0.65178	-0.14	4.97	4.97	0.65823	.	0.053357	0.85682	N	0.000000	T	0.78033	0.4220	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	T	0.76708	-0.2860	10	0.29301	T	0.29	-4.8266	16.9751	0.86311	0.0:1.0:0.0:0.0	.	304	Q6P1J9	CDC73_HUMAN	K	304	ENSP00000356405:T304K	ENSP00000356405:T304K	T	+	2	0	CDC73	191388136	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.444000	0.66587	2.294000	0.77228	0.591000	0.81541	ACG		PASS	0.338	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		3	13	3	13	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198678943	198678943	+	Silent	SNP	A	A	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:198678943A>C	ENST00000367376.2	+	11	1326	c.1155A>C	c.(1153-1155)acA>acC	p.T385T	PTPRC_ENST00000594404.1_Silent_p.T224T|PTPRC_ENST00000348564.6_Silent_p.T226T|PTPRC_ENST00000352140.3_Silent_p.T337T|PTPRC_ENST00000442510.2_Silent_p.T387T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	385					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T385T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTATTAAAACAGATTTTGGGA	0.284																																						uc001gur.1																			1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1153-1155)ACA>ACC		protein tyrosine phosphatase, receptor type, C							73.0	88.0	83.0					1																	198678943		2199	4266	6465	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198678943A>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1155A>C	1.37:g.198678943A>C						PTPRC_uc001gus.1_Silent_p.T337T|PTPRC_uc001gut.1_Silent_p.T224T|PTPRC_uc009wzf.1_Silent_p.T273T|PTPRC_uc010ppg.1_Silent_p.T321T	p.T385T	NM_002838	NP_002829	P08575	PTPRC_HUMAN			11	1335	+			385			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.1155A>C																																																																																					PASS	0.284	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				18	39	18	39	---	---	---	---
ZNF281	23528	broad.mit.edu	37	1	200377463	200377463	+	Silent	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:200377463T>C	ENST00000294740.3	-	2	1495	c.1371A>G	c.(1369-1371)gaA>gaG	p.E457E	ZNF281_ENST00000367353.1_Silent_p.E457E|ZNF281_ENST00000367352.3_Silent_p.E421E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	457					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E457E(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TCTTCTGCAGTTCATCTATTC	0.373																																						uc001gve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1369-1371)GAA>GAG		zinc finger protein 281							117.0	112.0	114.0					1																	200377463		2203	4300	6503	SO:0001819	synonymous_variant	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377463T>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1371A>G	1.37:g.200377463T>C						ZNF281_uc001gvf.1_Silent_p.E457E|ZNF281_uc001gvg.1_Silent_p.E421E	p.E457E	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1478	-			457					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP	ENST00000294740.3	37	c.1371A>G	CCDS1402.1																																																																																				PASS	0.373	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		19	56	19	56	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	210856671	210856671	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:210856671C>A	ENST00000271751.4	-	11	2949	c.2922G>T	c.(2920-2922)tcG>tcT	p.S974S	KCNH1_ENST00000367007.4_Silent_p.S947S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	974					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.S974S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACTGTGGCCTCGATATTTCAA	0.438																																						uc001hib.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2920-2922)TCG>TCT		potassium voltage-gated channel, subfamily H,							93.0	102.0	99.0					1																	210856671		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210856671C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2922G>T	1.37:g.210856671C>A						KCNH1_uc001hic.2_Silent_p.S947S	p.S974S	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	3092	-			974			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.2922G>T	CCDS1496.1																																																																																				PASS	0.438	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		5	123	5	123	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248202064	248202064	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr1:248202064C>A	ENST00000366479.2	+	1	591	c.495C>A	c.(493-495)atC>atA	p.I165I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I165I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACTCTGTATCCCATATTGCA	0.433																																						uc001idw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(493-495)ATC>ATA		olfactory receptor, family 2, subfamily L,							194.0	178.0	183.0					1																	248202064		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202064C>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.495C>A	1.37:g.248202064C>A						OR2L13_uc001ids.2_Intron	p.I165I	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	591	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		165			Extracellular (Potential).		Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.495C>A	CCDS31103.1																																																																																				PASS	0.433	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		33	65	33	65	---	---	---	---
THUMPD2	80745	broad.mit.edu	37	2	39963957	39963957	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:39963957G>T	ENST00000505747.1	-	10	1457	c.1430C>A	c.(1429-1431)cCa>cAa	p.P477Q	THUMPD2_ENST00000260619.6_Missense_Mutation_p.P447Q	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	477							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.P447Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GCATTCCACTGGTACCAAGGA	0.438																																						uc002rru.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1429-1431)CCA>CAA		THUMP domain containing 2							176.0	163.0	168.0					2																	39963957		2203	4300	6503	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39963957G>T	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.1430C>A	2.37:g.39963957G>T	ENSP00000423933:p.Pro477Gln					THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.P368Q	p.P477Q	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN			10	1467	-		all_hematologic(82;0.248)	477					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.1430C>A	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133298	0.37630	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.81	3.86	0.44501	.	0.263097	0.32785	N	0.005650	T	0.30262	0.0759	L	0.47716	1.5	0.25447	N	0.988047	B;B	0.30281	0.275;0.117	B;B	0.28139	0.086;0.051	T	0.08207	-1.0733	8	.	.	.	.	5.9632	0.19310	0.0949:0.0:0.7036:0.2015	.	368;477	B4DP37;Q9BTF0	.;THUM2_HUMAN	Q	477;447	.	.	P	-	2	0	THUMPD2	39817461	0.918000	0.31147	0.984000	0.44739	0.902000	0.53008	1.475000	0.35409	2.746000	0.94184	0.591000	0.81541	CCA		PASS	0.438	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		5	72	5	72	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61441365	61441365	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:61441365G>T	ENST00000398571.2	-	68	8588	c.8512C>A	c.(8512-8514)Cat>Aat	p.H2838N	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2838					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.H2838N(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCATCATGGTCAGCAAGG	0.478																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(8512-8514)CAT>AAT		ubiquitin specific protease 34							152.0	146.0	148.0					2																	61441365		2075	4226	6301	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61441365G>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8512C>A	2.37:g.61441365G>T	ENSP00000381577:p.His2838Asn						p.H2838N	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		68	8534	-			2838					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8512C>A	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.791945|4.791945	0.90453|0.90453	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.38560|.	1.13|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-type fold (1);|.	0.043223|.	0.85682|.	D|.	0.000000|.	T|T	0.73528|0.73528	0.3598|0.3598	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.45126|.	0.851|.	P|.	0.58391|.	0.838|.	T|T	0.69401|0.69401	-0.5155|-0.5155	10|5	0.66056|.	D|.	0.02|.	.|.	20.0108|20.0108	0.97448|0.97448	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2838|.	Q70CQ2|.	UBP34_HUMAN|.	N|Q	2686;2686;2838|597	ENSP00000381577:H2838N|.	ENSP00000263989:H2686N|.	H|P	-|-	1|2	0|0	USP34|USP34	61294869|61294869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.835000|9.835000	0.99442|0.99442	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	CAT|CCA		PASS	0.478	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			6	69	6	69	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79350303	79350303	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:79350303G>A	ENST00000233735.1	+	6	566	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	155	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.E155K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGTGCCTTGTGAAGACAAGTT	0.413																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)GAA>AAA		regenerating islet-derived 1 alpha precursor							91.0	90.0	90.0					2																	79350303		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350303G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.463G>A	2.37:g.79350303G>A	ENSP00000233735:p.Glu155Lys					REG1A_uc010ysd.1_Missense_Mutation_p.E155K	p.E155K	NM_002909	NP_002900	P05451	REG1A_HUMAN			6	566	+			155			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.463G>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	9.669	1.146105	0.21288	.	.	ENSG00000115386	ENST00000233735	T	0.08370	3.1	3.11	-0.265	0.12946	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	1.289550	0.05745	N	0.602090	T	0.05640	0.0148	L	0.28776	0.89	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.44544	-0.9321	10	0.22706	T	0.39	.	1.319	0.02112	0.1381:0.2193:0.4189:0.2238	.	155	P05451	REG1A_HUMAN	K	155	ENSP00000233735:E155K	ENSP00000233735:E155K	E	+	1	0	REG1A	79203811	0.035000	0.19736	0.040000	0.18447	0.105000	0.19272	0.004000	0.13106	0.143000	0.18926	0.557000	0.71058	GAA		PASS	0.413	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		6	51	6	51	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141291599	141291599	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:141291599C>A	ENST00000389484.3	-	47	8724	c.7753G>T	c.(7753-7755)Gat>Tat	p.D2585Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2585	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D2585Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTTACAATCTAATTCATCA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7753-7755)GAT>TAT		low density lipoprotein-related protein 1B							119.0	113.0	115.0					2																	141291599		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141291599C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7753G>T	2.37:g.141291599C>A	ENSP00000374135:p.Asp2585Tyr	TSP Lung(27;0.18)					p.D2585Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	47	8725	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2585			Extracellular (Potential).|LDL-receptor class A 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7753G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	6.312	0.425654	0.11987	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96011	-3.88	5.42	4.54	0.55810	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.320146	0.28865	U	0.013890	D	0.94262	0.8157	M	0.65498	2.005	0.28800	N	0.898847	B	0.02656	0.0	B	0.09377	0.004	D	0.89714	0.3914	10	0.62326	D	0.03	.	15.7914	0.78367	0.1374:0.8626:0.0:0.0	.	2585	Q9NZR2	LRP1B_HUMAN	Y	2585;2523	ENSP00000374135:D2585Y	ENSP00000374135:D2585Y	D	-	1	0	LRP1B	141008069	0.498000	0.26075	0.499000	0.27577	0.985000	0.73830	2.876000	0.48498	1.395000	0.46643	0.563000	0.77884	GAT		PASS	0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	33	8	33	---	---	---	---
RBMS1	5937	broad.mit.edu	37	2	161141535	161141535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:161141535G>T	ENST00000348849.3	-	8	1207	c.777C>A	c.(775-777)taC>taA	p.Y259*	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Nonsense_Mutation_p.Y223*|RBMS1_ENST00000409972.1_Nonsense_Mutation_p.Y223*|RBMS1_ENST00000392753.3_Nonsense_Mutation_p.Y256*|RBMS1_ENST00000409075.1_Nonsense_Mutation_p.Y223*	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	259					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Y259*(1)	PLA2R1/RBMS1(2)								TAGTTGGGTCGTAAGTAAGTG	0.368																																						uc002ubo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(775-777)TAC>TAA		RNA binding motif, single stranded interacting							107.0	105.0	106.0					2																	161141535		2203	4300	6503	SO:0001587	stop_gained	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161141535G>T	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.777C>A	2.37:g.161141535G>T	ENSP00000294904:p.Tyr259*					RBMS1_uc002ubj.2_Nonsense_Mutation_p.Y223*|RBMS1_uc002ubk.2_Nonsense_Mutation_p.Y223*|RBMS1_uc002ubl.2_Nonsense_Mutation_p.Y254*|RBMS1_uc002ubn.2_Nonsense_Mutation_p.Y256*|RBMS1_uc002ubi.3_Nonsense_Mutation_p.Y256*|RBMS1_uc002ubm.2_Nonsense_Mutation_p.Y226*|RBMS1_uc002ubp.2_Nonsense_Mutation_p.Y259*|RBMS1_uc010fox.2_Nonsense_Mutation_p.Y259*	p.Y259*	NM_016836	NP_058520	P29558	RBMS1_HUMAN			8	1221	-			259					Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Nonsense_Mutation	SNP	ENST00000348849.3	37	c.777C>A	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791967	0.70452	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	.	.	.	5.27	-1.48	0.08745	.	0.110374	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.089	0.42436	0.6551:0.0:0.3449:0.0	.	.	.	.	X	259;223;223;256;223	.	ENSP00000294904:Y259X	Y	-	3	2	RBMS1	160849781	1.000000	0.71417	0.989000	0.46669	0.369000	0.29798	1.863000	0.39459	-0.433000	0.07286	-0.471000	0.05019	TAC		PASS	0.368	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		26	29	26	29	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168108054	168108054	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:168108054G>T	ENST00000409195.1	+	9	10241	c.10152G>T	c.(10150-10152)acG>acT	p.T3384T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T3162T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T3384T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3209					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.T3384T(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						TAGGAAACACGAGTTTTACAG	0.383																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(10150-10152)ACG>ACT		xin actin-binding repeat containing 2 isoform 1							133.0	132.0	132.0					2																	168108054		1838	4080	5918	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108054G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10152G>T	2.37:g.168108054G>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T3209T|XIRP2_uc010fpq.2_Silent_p.T3162T|XIRP2_uc010fpr.2_Intron	p.T3384T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10170	+			3209					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.10152G>T	CCDS42769.1																																																																																				PASS	0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		21	80	21	80	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169780238	169780238	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:169780238G>T	ENST00000263817.6	-	28	3984	c.3860C>A	c.(3859-3861)gCt>gAt	p.A1287D		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1287	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.A1287D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGCCATGACAGCAATGATATC	0.532																																						uc002ueo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(3859-3861)GCT>GAT		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						141.0	143.0	142.0					2																	169780238		2109	4253	6362	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169780238G>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3860C>A	2.37:g.169780238G>T	ENSP00000263817:p.Ala1287Asp					ABCB11_uc010zda.1_Missense_Mutation_p.A705D|ABCB11_uc010zdb.1_Missense_Mutation_p.A763D	p.A1287D	NM_003742	NP_003733	O95342	ABCBB_HUMAN			28	3986	-			1287			Cytoplasmic (Potential).|ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3860C>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358740	0.95854	.	.	ENSG00000073734	ENST00000263817	T	0.65916	-0.18	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	L	0.53617	1.68	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.68039	0.955;0.918	T	0.76767	-0.2838	10	0.72032	D	0.01	.	20.2433	0.98387	0.0:0.0:1.0:0.0	.	705;1287	B4DZQ8;O95342	.;ABCBB_HUMAN	D	1287	ENSP00000263817:A1287D	ENSP00000263817:A1287D	A	-	2	0	ABCB11	169488484	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.763000	0.68818	2.784000	0.95788	0.650000	0.86243	GCT		PASS	0.532	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		10	61	10	61	---	---	---	---
CDCA7	83879	broad.mit.edu	37	2	174230295	174230295	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:174230295G>A	ENST00000347703.3	+	6	917	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	CDCA7_ENST00000392567.2_Missense_Mutation_p.R258Q|CDCA7_ENST00000410019.3_Missense_Mutation_p.R216Q|CDCA7_ENST00000306721.3_Missense_Mutation_p.R337Q|CDCA7_ENST00000410101.3_Missense_Mutation_p.R293Q	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	258	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R337Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AGCAATTCTCGAGAGAAGATA	0.478																																						uc002uid.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(772-774)CGA>CAA		cell division cycle associated 7 isoform 2							69.0	62.0	64.0					2																	174230295		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174230295G>A	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.773G>A	2.37:g.174230295G>A	ENSP00000272789:p.Arg258Gln					CDCA7_uc002uic.1_Missense_Mutation_p.R337Q|CDCA7_uc010zej.1_Missense_Mutation_p.R293Q|CDCA7_uc010zek.1_Missense_Mutation_p.R216Q	p.R258Q	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		6	904	+			258			Mediates transcriptional activity.		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.773G>A	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787731	0.70337	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.50001	0.77;0.78;0.76;0.77;0.78	5.71	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.52905	1.665	0.45087	D	0.998103	P;P;B;P	0.49090	0.646;0.919;0.262;0.89	B;B;B;B	0.38327	0.14;0.231;0.062;0.271	T	0.48822	-0.9001	10	0.46703	T	0.11	-10.6525	16.1275	0.81404	0.0:0.0:0.866:0.134	.	216;293;258;337	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	Q	258;258;337;293;216	ENSP00000272789:R258Q;ENSP00000376348:R258Q;ENSP00000306968:R337Q;ENSP00000386656:R293Q;ENSP00000386833:R216Q	ENSP00000306968:R337Q	R	+	2	0	CDCA7	173938541	0.983000	0.35010	1.000000	0.80357	0.976000	0.68499	5.487000	0.66863	2.710000	0.92621	0.491000	0.48974	CGA		PASS	0.478	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		7	33	7	33	---	---	---	---
TTC30A	92104	broad.mit.edu	37	2	178482680	178482680	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:178482680C>A	ENST00000355689.5	-	1	1014	c.750G>T	c.(748-750)ctG>ctT	p.L250L	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	250					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.L250L(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AGGCTTCCACCAGAGCAGTCT	0.537																																						uc002ulo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(748-750)CTG>CTT		tetratricopeptide repeat domain 30A							106.0	109.0	108.0					2																	178482680		2203	4300	6503	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178482680C>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.750G>T	2.37:g.178482680C>A							p.L250L	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1015	-			250					A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.750G>T	CCDS2276.1																																																																																				PASS	0.537	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		5	73	5	73	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179411391	179411391	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:179411391A>T	ENST00000591111.1	-	291	90065	c.89841T>A	c.(89839-89841)aaT>aaA	p.N29947K	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N22648K|TTN_ENST00000589042.1_Missense_Mutation_p.N31588K|TTN_ENST00000342992.6_Missense_Mutation_p.N29020K|TTN_ENST00000342175.6_Missense_Mutation_p.N22715K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N22523K|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29947	Fibronectin type-III 118. {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.N29018K(1)|p.N22715K(1)|p.N29020K(1)|p.N22648K(1)|p.N22523K(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)			CGCCTGCTGCATTCTTGGCTA	0.438																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(87058-87060)AAT>AAA		titin isoform N2-A							74.0	71.0	72.0					2																	179411391		1969	4168	6137	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411391A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89841T>A	2.37:g.179411391A>T	ENSP00000465570:p.Asn29947Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N22715K|TTN_uc010zfi.1_Missense_Mutation_p.N22648K|TTN_uc010zfj.1_Missense_Mutation_p.N22523K	p.N29020K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		290	87284	-			29947					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.87060T>A		.	.	.	.	.	.	.	.	.	.	A	17.06	3.291999	0.59976	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	6.03	-1.91	0.07641	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86973	0.6062	H	0.99811	4.8	0.50632	D	0.999886	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.89149	0.3522	9	0.87932	D	0	.	12.7526	0.57316	0.4771:0.0:0.5229:0.0	.	22523;22648;22715;29947	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	29020;22523;22715;22648;22520	ENSP00000343764:N29020K;ENSP00000434586:N22523K;ENSP00000340554:N22715K;ENSP00000352154:N22648K	ENSP00000340554:N22715K	N	-	3	2	TTN	179119637	0.992000	0.36948	0.998000	0.56505	0.997000	0.91878	0.575000	0.23729	-0.098000	0.12285	0.533000	0.62120	AAT		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	36	11	36	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179457260	179457260	+	Silent	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:179457260G>A	ENST00000591111.1	-	251	54773	c.54549C>T	c.(54547-54549)gaC>gaT	p.D18183D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.D10884D|TTN_ENST00000589042.1_Silent_p.D19824D|TTN_ENST00000342992.6_Silent_p.D17256D|TTN_ENST00000342175.6_Silent_p.D10951D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.D10759D			Q8WZ42	TITIN_HUMAN	titin	18183	Ig-like 105.				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.D10884D(1)|p.D10759D(1)|p.D17254D(1)|p.D10951D(1)|p.D17256D(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)			GAGCATCTCTGTCTTCTTTTT	0.388																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(51766-51768)GAC>GAT		titin isoform N2-A							298.0	272.0	280.0					2																	179457260		1893	4110	6003	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457260G>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.54549C>T	2.37:g.179457260G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D10951D|TTN_uc010zfi.1_Silent_p.D10884D|TTN_uc010zfj.1_Silent_p.D10759D	p.D17256D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	51992	-			18183					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.51768C>T																																																																																					PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	130	19	130	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197090571	197090571	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:197090571A>T	ENST00000260983.3	-	23	4123	c.3941T>A	c.(3940-3942)cTt>cAt	p.L1314H	HECW2_ENST00000409111.1_Missense_Mutation_p.L958H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1314	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L1314H(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCAAGACCAAGGATCCTACC	0.423																																						uc002utm.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3940-3942)CTT>CAT		HECT, C2 and WW domain containing E3 ubiquitin							136.0	109.0	118.0					2																	197090571		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197090571A>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3941T>A	2.37:g.197090571A>T	ENSP00000260983:p.Leu1314His					HECW2_uc002utl.1_Missense_Mutation_p.L958H	p.L1314H	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			23	4124	-			1314			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3941T>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657334	0.88154	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.52983	0.64;0.64	5.17	5.17	0.71159	HECT (4);	0.079837	0.64402	D	0.000020	T	0.78910	0.4358	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.86412	0.1749	10	0.87932	D	0	.	15.1845	0.72989	1.0:0.0:0.0:0.0	.	1314	Q9P2P5	HECW2_HUMAN	H	958;1314	ENSP00000386775:L958H;ENSP00000260983:L1314H	ENSP00000260983:L1314H	L	-	2	0	HECW2	196798816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.761000	0.91691	2.182000	0.69389	0.459000	0.35465	CTT		PASS	0.423	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		5	33	5	33	---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206562429	206562429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:206562429G>T	ENST00000357785.5	+	2	266	c.235G>T	c.(235-237)Gag>Tag	p.E79*	NRP2_ENST00000355117.4_Nonsense_Mutation_p.E79*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.E79*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.E79*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.E79*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.E79*|NRP2_ENST00000360409.3_Nonsense_Mutation_p.E79*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.E79*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.E79*			Q99435	NELL2_HUMAN	neuropilin 2	0	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E79*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTTTGAAATCGAGAAGCACGA	0.552																																						uc002vaw.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(235-237)GAG>TAG		neuropilin 2 isoform 1 precursor							223.0	219.0	220.0					2																	206562429		2203	4300	6503	SO:0001587	stop_gained	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206562429G>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.235G>T	2.37:g.206562429G>T	ENSP00000350432:p.Glu79*					NRP2_uc002vat.2_Nonsense_Mutation_p.E79*|NRP2_uc002vau.2_Nonsense_Mutation_p.E79*|NRP2_uc002vav.2_Nonsense_Mutation_p.E79*|NRP2_uc002vax.2_Nonsense_Mutation_p.E79*|NRP2_uc002vay.2_Nonsense_Mutation_p.E79*|NRP2_uc010fud.2_Nonsense_Mutation_p.E79*	p.E79*	NM_201266	NP_957718	O60462	NRP2_HUMAN			2	1026	+			79			Extracellular (Potential).|CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000357785.5	37	c.235G>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	42	9.405845	0.99161	.	.	ENSG00000118257	ENST00000340626;ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.5874	18.608	0.91273	0.0:0.0:1.0:0.0	.	.	.	.	X	79	.	ENSP00000272849:E79X	E	+	1	0	NRP2	206270674	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.450000	0.82876	0.655000	0.94253	GAG		PASS	0.552	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			9	289	9	289	---	---	---	---
UNC80	285175	broad.mit.edu	37	2	210654270	210654270	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:210654270C>A	ENST00000439458.1	+	6	819	c.739C>A	c.(739-741)Cct>Act	p.P247T	UNC80_ENST00000272845.6_Missense_Mutation_p.P247T|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	247					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P247T(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GAGAAGTTCTCCTATCAACAG	0.343																																						uc010zjc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(739-741)CCT>ACT		chromosome 2 open reading frame 21 isoform 1							108.0	114.0	112.0					2																	210654270		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210654270C>A	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.739C>A	2.37:g.210654270C>A	ENSP00000391088:p.Pro247Thr					UNC80_uc002vdj.1_Missense_Mutation_p.P247T	p.P247T	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			6	819	+			247					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.739C>A	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625692	0.66901	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.36699	1.24;1.25	5.29	5.29	0.74685	.	0.111023	0.64402	D	0.000008	T	0.52354	0.1729	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.983	T	0.45160	-0.9280	10	0.37606	T	0.19	.	18.5263	0.90974	0.0:1.0:0.0:0.0	.	247;247	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	T	247	ENSP00000391088:P247T;ENSP00000272845:P247T	ENSP00000272845:P247T	P	+	1	0	UNC80	210362515	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	5.576000	0.67437	2.473000	0.83533	0.491000	0.48974	CCT		PASS	0.343	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		20	99	20	99	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219869012	219869012	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:219869012C>A	ENST00000341552.5	-	33	5300	c.5217G>T	c.(5215-5217)gaG>gaT	p.E1739D	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1739D|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1739D|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1739						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E1739D(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCCCATCCTCCCAGCTGC	0.527																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(5215-5217)GAG>GAT		coiled-coil domain containing 108 isoform 1							179.0	168.0	172.0					2																	219869012		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219869012C>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5217G>T	2.37:g.219869012C>A	ENSP00000340776:p.Glu1739Asp					uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	p.E1739D	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5301	-		Renal(207;0.0915)	1739					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.5217G>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030463	0.35797	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.06449	3.3;3.3;3.3	4.25	2.44	0.29823	.	0.328596	0.21922	N	0.067147	T	0.05686	0.0149	L	0.47716	1.5	0.28159	N	0.929083	B	0.16603	0.018	B	0.17433	0.018	T	0.30446	-0.9978	10	0.30078	T	0.28	-13.0784	4.6833	0.12745	0.175:0.6409:0.0:0.1841	.	1739	Q6ZU64	CC108_HUMAN	D	1739	ENSP00000340776:E1739D;ENSP00000413377:E1739D;ENSP00000409117:E1739D	ENSP00000340776:E1739D	E	-	3	2	CCDC108	219577256	0.002000	0.14202	0.042000	0.18584	0.049000	0.14656	0.650000	0.24858	0.455000	0.26910	-0.310000	0.09108	GAG		PASS	0.527	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		19	61	19	61	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220309423	220309423	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:220309423G>A	ENST00000312358.7	+	2	569	c.437G>A	c.(436-438)cGc>cAc	p.R146H	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.R42H	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	146					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R146H(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGAACCCAGCGCCTGGAGCTT	0.632																																						uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(436-438)CGC>CAC		SPEG complex locus							53.0	60.0	58.0					2																	220309423		1977	4137	6114	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309423G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.437G>A	2.37:g.220309423G>A	ENSP00000311684:p.Arg146His					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR	p.R146H	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	2	437	+		Renal(207;0.0183)	146					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.437G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522553	0.64747	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000435853;ENST00000431523;ENST00000396698	T;T;T;T	0.67171	-0.2;-0.02;-0.02;-0.25	4.86	4.86	0.63082	.	0.000000	0.37715	U	0.001971	T	0.66076	0.2753	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.72912	-0.4148	10	0.51188	T	0.08	.	15.7524	0.77997	0.0:0.0:1.0:0.0	.	146	Q15772	SPEG_HUMAN	H	146;146;55;52;42	ENSP00000311684:R146H;ENSP00000393134:R55H;ENSP00000410986:R52H;ENSP00000379926:R42H	ENSP00000265327:R146H	R	+	2	0	SPEG	220017667	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.477000	0.45180	2.227000	0.72691	0.442000	0.29010	CGC		PASS	0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		9	37	9	37	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227924170	227924170	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:227924170C>A	ENST00000396625.3	-	28	2541	c.2334G>T	c.(2332-2334)gtG>gtT	p.V778V	COL4A4_ENST00000329662.7_Silent_p.V778V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	778	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.V778V(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTATCCCTGGCACTCCTGAAA	0.577																																						uc010zlt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2332-2334)GTG>GTT		alpha 4 type IV collagen precursor							132.0	140.0	137.0					2																	227924170		1865	4085	5950	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924170C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2334G>T	2.37:g.227924170C>A							p.V778V	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2988	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	778			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.2334G>T	CCDS42828.1																																																																																				PASS	0.577	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		25	119	25	119	---	---	---	---
ATG16L1	55054	broad.mit.edu	37	2	234202917	234202917	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:234202917C>A	ENST00000392017.4	+	18	2002	c.1745C>A	c.(1744-1746)gCg>gAg	p.A582E	ATG16L1_ENST00000373525.5_Missense_Mutation_p.A403E|ATG16L1_ENST00000347464.5_Missense_Mutation_p.A419E|ATG16L1_ENST00000392018.1_Missense_Mutation_p.A599E|ATG16L1_ENST00000392020.4_Missense_Mutation_p.A563E	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	582					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.A582E(1)|p.R241R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TCCATCAATGCGGTGGCGTGG	0.522																																						uc002vty.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1744-1746)GCG>GAG		APG16 autophagy 16-like isoform 1							102.0	92.0	95.0					2																	234202917		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234202917C>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1745C>A	2.37:g.234202917C>A	ENSP00000375872:p.Ala582Glu					ATG16L1_uc002vtx.1_Missense_Mutation_p.A419E|ATG16L1_uc002vua.2_Missense_Mutation_p.A563E|ATG16L1_uc002vub.2_Missense_Mutation_p.A440E|ATG16L1_uc002vtz.2_Missense_Mutation_p.A403E|ATG16L1_uc002vud.3_Missense_Mutation_p.A498E	p.A582E	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	18	2002	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	582			WD 7.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.1745C>A	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758787	0.69763	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.159621	0.56097	D	0.000026	D	0.84032	0.5383	M	0.93594	3.435	0.80722	D	1	D;P;P;P;P	0.55605	0.972;0.603;0.875;0.772;0.897	D;P;P;P;P	0.63488	0.915;0.51;0.705;0.642;0.791	D	0.88470	0.3061	10	0.87932	D	0	.	18.7495	0.91809	0.0:1.0:0.0:0.0	.	536;563;403;582;419	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	E	582;419;403;563;599	ENSP00000375872:A582E;ENSP00000318259:A419E;ENSP00000362625:A403E;ENSP00000375875:A563E;ENSP00000375873:A599E	ENSP00000318259:A419E	A	+	2	0	ATG16L1	233867656	1.000000	0.71417	0.643000	0.29450	0.113000	0.19764	7.221000	0.78016	2.438000	0.82558	0.591000	0.81541	GCG		PASS	0.522	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		10	43	10	43	---	---	---	---
UGT1A9	54600	broad.mit.edu	37	2	234580705	234580705	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr2:234580705G>T	ENST00000354728.4	+	1	207	c.125G>T	c.(124-126)aGg>aTg	p.R42M	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.R42M			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	42					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R42M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TTCACCATGAGGTCGGTGGTG	0.552																																						uc002vus.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(124-126)AGG>ATG		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						91.0	76.0	81.0					2																	234580705		2203	4300	6503	SO:0001583	missense	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234580705G>T	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.125G>T	2.37:g.234580705G>T	ENSP00000346768:p.Arg42Met					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R42M	p.R42M	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	162	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	42					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.125G>T	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318123	0.23994	.	.	ENSG00000241119	ENST00000354728	T	0.61274	0.12	3.45	-2.17	0.07059	.	.	.	.	.	T	0.72661	0.3488	M	0.80982	2.52	0.09310	N	1	B;B	0.33171	0.4;0.4	P;P	0.54706	0.759;0.759	T	0.73014	-0.4116	9	0.87932	D	0	.	10.1402	0.42730	0.5475:0.0:0.4525:0.0	.	42;42	Q5DSZ5;O60656	.;UD19_HUMAN	M	42	ENSP00000346768:R42M	ENSP00000346768:R42M	R	+	2	0	UGT1A9	234245444	0.000000	0.05858	0.006000	0.13384	0.336000	0.28762	-0.019000	0.12546	-0.706000	0.05028	-0.493000	0.04662	AGG		PASS	0.552	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		14	38	14	38	---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11301422	11301422	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:11301422C>A	ENST00000397056.1	+	3	890	c.699C>A	c.(697-699)tcC>tcA	p.S233S	HRH1_ENST00000438284.2_Silent_p.S233S|HRH1_ENST00000431010.2_Silent_p.S233S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	233					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.S233S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCCTCCCTTCCTTCTCAGAAA	0.537																																						uc010hdr.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(697-699)TCC>TCA		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						77.0	78.0	78.0					3																	11301422		2203	4300	6503	SO:0001819	synonymous_variant	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301422C>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.699C>A	3.37:g.11301422C>A						HRH1_uc010hds.2_Silent_p.S233S|HRH1_uc010hdt.2_Silent_p.S233S|HRH1_uc003bwb.3_Silent_p.S233S	p.S233S	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	1041	+			233			Cytoplasmic (Potential).		A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	c.699C>A	CCDS2604.1																																																																																				PASS	0.537	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			5	74	5	74	---	---	---	---
TIMP4	7079	broad.mit.edu	37	3	12195893	12195893	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:12195893C>A	ENST00000287814.4	-	4	921	c.411G>T	c.(409-411)tgG>tgT	p.W137C	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	137	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.W137C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						ACAGGTCCTCCCAGGGCTCGA	0.493																																					Melanoma(199;1446 2144 30617 38794 51714)	uc003bwo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)TGG>TGT		tissue inhibitor of metalloproteinase 4							206.0	174.0	185.0					3																	12195893		2203	4300	6503	SO:0001583	missense	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12195893C>A	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.411G>T	3.37:g.12195893C>A	ENSP00000287814:p.Trp137Cys					SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	p.W137C	NM_003256	NP_003247	Q99727	TIMP4_HUMAN			4	718	-			137			NTR.		B2R7K6	Missense_Mutation	SNP	ENST00000287814.4	37	c.411G>T	CCDS2608.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782415	0.70222	.	.	ENSG00000157150	ENST00000287814	D	0.96073	-3.9	4.88	4.0	0.46444	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.064957	0.64402	D	0.000003	D	0.97632	0.9224	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.98190	1.0462	10	0.87932	D	0	.	13.2614	0.60106	0.0:0.9239:0.0:0.0761	.	137	Q99727	TIMP4_HUMAN	C	137	ENSP00000287814:W137C	ENSP00000287814:W137C	W	-	3	0	TIMP4	12170893	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.274000	0.78538	1.283000	0.44513	0.491000	0.48974	TGG		PASS	0.493	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		39	46	39	46	---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27332856	27332856	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:27332856T>A	ENST00000429845.2	-	19	1864	c.1502A>T	c.(1501-1503)gAa>gTa	p.E501V	NEK10_ENST00000341435.5_Missense_Mutation_p.E501V|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	501					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E501V(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCAATATTTTCAGCAATTTG	0.343																																						uc003cdt.1																			3	Substitution - Missense(3)		lung(3)	ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(1501-1503)GAA>GTA		NIMA-related kinase 10 isoform 3							158.0	143.0	147.0					3																	27332856		1568	3582	5150	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27332856T>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1502A>T	3.37:g.27332856T>A	ENSP00000395849:p.Glu501Val					NEK10_uc003cds.1_5'UTR	p.E501V	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			19	1776	-			501			Potential.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1502A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.154980|4.154980	0.78114|0.78114	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000341435;ENST00000396636|ENST00000424275	T|.	0.71103|.	-0.54|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Protein kinase-like domain (1);|.	0.122077|.	0.52532|.	D|.	0.000064|.	T|.	0.58581|.	0.2132|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P|.	0.39665|.	0.682|.	B|.	0.37692|.	0.256|.	T|.	0.55315|.	-0.8160|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.7057|15.7057	0.77580|0.77580	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	501|.	Q6ZWH5|.	NEK10_HUMAN|.	V|X	501|34	ENSP00000343847:E501V|.	ENSP00000343847:E501V|.	E|K	-|-	2|1	0|0	NEK10|NEK10	27307860|27307860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.412000|5.412000	0.66392|0.66392	2.105000|2.105000	0.64084|0.64084	0.528000|0.528000	0.53228|0.53228	GAA|AAA		PASS	0.343	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		18	25	18	25	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37292888	37292888	+	Silent	SNP	G	G	T	rs201354584		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:37292888G>T	ENST00000361924.2	+	2	449	c.75G>T	c.(73-75)gcG>gcT	p.A25A	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Silent_p.A25A|GOLGA4_ENST00000444882.1_Silent_p.A25A	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	25					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.A25A(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAATCTAGGCGTCCTCCAATT	0.388																																						uc003cgv.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(73-75)GCG>GCT		golgi autoantigen, golgin subfamily a, 4							90.0	83.0	86.0					3																	37292888		2203	4300	6503	SO:0001819	synonymous_variant	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37292888G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.75G>T	3.37:g.37292888G>T						GOLGA4_uc010hgr.1_Silent_p.A25A|GOLGA4_uc003cgw.2_Silent_p.A25A|GOLGA4_uc010hgs.2_Silent_p.A25A|GOLGA4_uc003cgu.1_Silent_p.A25A	p.A25A	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			2	379	+			25					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	c.75G>T	CCDS2666.1																																																																																				PASS	0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		15	19	15	19	---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47734751	47734751	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:47734751C>A	ENST00000254480.5	-	12	1324	c.1205G>T	c.(1204-1206)gGa>gTa	p.G402V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	402					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.G402V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TACAGTTCCTCCTTTAACAGG	0.343																																						uc003crq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(1204-1206)GGA>GTA		SWI/SNF-related matrix-associated							194.0	180.0	184.0					3																	47734751		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47734751C>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1205G>T	3.37:g.47734751C>A	ENSP00000254480:p.Gly402Val					SMARCC1_uc011bbd.1_Missense_Mutation_p.G293V	p.G402V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	12	1323	-			402					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1205G>T	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999149	0.74818	.	.	ENSG00000173473	ENST00000254480	T	0.51574	0.7	4.94	4.05	0.47172	.	0.204155	0.51477	D	0.000091	T	0.68604	0.3019	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73748	-0.3885	10	0.87932	D	0	-21.2615	14.2391	0.65945	0.0:0.8494:0.1506:0.0	.	402	Q92922	SMRC1_HUMAN	V	402	ENSP00000254480:G402V	ENSP00000254480:G402V	G	-	2	0	SMARCC1	47709755	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.710000	0.74670	1.172000	0.42781	0.655000	0.94253	GGA		PASS	0.343	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			5	59	5	59	---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50151525	50151525	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:50151525A>G	ENST00000347869.3	+	19	1935	c.1760A>G	c.(1759-1761)gAg>gGg	p.E587G	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	587	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E587G(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCTCTTTGAGAAGAAGGTA	0.448																																						uc003cyg.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1759-1761)GAG>GGG		RNA binding motif protein 5							72.0	78.0	76.0					3																	50151525		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50151525A>G	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1760A>G	3.37:g.50151525A>G	ENSP00000343054:p.Glu587Gly					RBM5_uc011bdj.1_Missense_Mutation_p.E531G|RBM5_uc011bdk.1_Missense_Mutation_p.E415G|RBM5_uc003cyh.2_Missense_Mutation_p.E44G	p.E587G	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	19	1908	+			587			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.1760A>G	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.898078	0.91962	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.20332	2.08	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53078	-0.8489	10	0.36615	T	0.2	-18.7155	15.2855	0.73826	1.0:0.0:0.0:0.0	.	277;587	Q59HE6;P52756	.;RBM5_HUMAN	G	587;586;277	ENSP00000343054:E587G	ENSP00000343054:E587G	E	+	2	0	RBM5	50126529	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.309000	0.96252	2.090000	0.63153	0.459000	0.35465	GAG		PASS	0.448	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		5	52	5	52	---	---	---	---
WNT5A	7474	broad.mit.edu	37	3	55513523	55513523	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:55513523G>T	ENST00000474267.1	-	4	731	c.210C>A	c.(208-210)agC>agA	p.S70R	WNT5A_ENST00000497027.1_Missense_Mutation_p.S55R|WNT5A_ENST00000264634.4_Missense_Mutation_p.S70R			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	70					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S163R(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CTGCCAGTTGGCTGCAGAGAG	0.478																																						uc003dhn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)AGC>AGA		wingless-type MMTV integration site family,							144.0	139.0	140.0					3																	55513523		1941	4143	6084	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55513523G>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.210C>A	3.37:g.55513523G>T	ENSP00000417310:p.Ser70Arg					WNT5A_uc003dhm.2_Missense_Mutation_p.S55R|WNT5A_uc010hmw.2_Missense_Mutation_p.S55R|WNT5A_uc010hmx.2_Intron	p.S70R	NM_003392	NP_003383	P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	3	528	-			70					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.210C>A	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597920	0.87055	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000497027;ENST00000482079	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.74	5.74	0.90152	.	0.101085	0.64402	D	0.000003	T	0.80788	0.4690	L	0.28608	0.87	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.80801	-0.1220	10	0.54805	T	0.06	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	70	P41221	WNT5A_HUMAN	R	70;70;55;55	ENSP00000417310:S70R;ENSP00000264634:S70R;ENSP00000420104:S55R;ENSP00000418184:S55R	ENSP00000264634:S70R	S	-	3	2	WNT5A	55488563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.698000	0.74608	2.873000	0.98535	0.563000	0.77884	AGC		PASS	0.478	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		17	106	17	106	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58127599	58127599	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:58127599A>C	ENST00000295956.4	+	30	5289	c.5124A>C	c.(5122-5124)gaA>gaC	p.E1708D	FLNB_ENST00000490882.1_Missense_Mutation_p.E1739D|FLNB_ENST00000357272.4_Missense_Mutation_p.E1708D|FLNB_ENST00000348383.5_Missense_Mutation_p.E1708D|FLNB_ENST00000419752.2_Missense_Mutation_p.E1539D|FLNB_ENST00000493452.1_Intron|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000429972.2_Missense_Mutation_p.E1708D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1708	Hinge 1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E1739D(1)|p.E1708D(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGATGGGGAAGTCACAGCCG	0.507																																						uc003djj.2																			2	Substitution - Missense(2)		lung(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(5122-5124)GAA>GAC		filamin B isoform 2							212.0	185.0	194.0					3																	58127599		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58127599A>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5124A>C	3.37:g.58127599A>C	ENSP00000295956:p.Glu1708Asp					FLNB_uc010hne.2_Missense_Mutation_p.E1739D|FLNB_uc003djk.2_Missense_Mutation_p.E1708D|FLNB_uc010hnf.2_Intron|FLNB_uc003djl.2_Missense_Mutation_p.E1539D|FLNB_uc003djm.2_Intron	p.E1708D	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	30	5289	+			1708			Hinge 1 (By similarity).		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.5124A>C	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	6.655	0.489409	0.12641	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000419752	D;D;D;D;D;D	0.86432	-2.03;-2.04;-2.05;-2.12;-2.12;-1.8	5.84	1.68	0.24146	.	0.822850	0.11371	N	0.570843	T	0.70579	0.3240	N	0.08118	0	0.38106	D	0.937407	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.57711	-0.7764	10	0.12430	T	0.62	.	8.0907	0.30799	0.4418:0.4164:0.0:0.1418	.	1739;1539;1708;1708	B2ZZ83;O75369-7;Q60FE7;O75369	.;.;.;FLNB_HUMAN	D	1708;1739;1708;1708;1708;1539	ENSP00000295956:E1708D;ENSP00000420213:E1739D;ENSP00000415599:E1708D;ENSP00000232447:E1708D;ENSP00000349819:E1708D;ENSP00000414532:E1539D	ENSP00000295956:E1708D	E	+	3	2	FLNB	58102639	0.999000	0.42202	0.998000	0.56505	0.962000	0.63368	0.413000	0.21148	0.418000	0.25898	0.533000	0.62120	GAA		PASS	0.507	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		24	33	24	33	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433190	73433190	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:73433190T>C	ENST00000263666.4	-	10	2641	c.2527A>G	c.(2527-2529)Agc>Ggc	p.S843G	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S565G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S500G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S500G|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S560G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	843					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S843G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCCCGTCGCTGGCTCTCCGC	0.657																																						uc003dpl.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2527-2529)AGC>GGC		PDZ domain containing ring finger 3							38.0	44.0	42.0					3																	73433190		2202	4300	6502	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433190T>C	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2527A>G	3.37:g.73433190T>C	ENSP00000263666:p.Ser843Gly					PDZRN3_uc011bgh.1_Missense_Mutation_p.S500G|PDZRN3_uc010hoe.1_Missense_Mutation_p.S541G|PDZRN3_uc011bgf.1_Missense_Mutation_p.S560G|PDZRN3_uc011bgg.1_Missense_Mutation_p.S563G	p.S843G	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2623	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	843					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2527A>G	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	T	0.462	-0.888613	0.02511	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.10288	2.89;3.57;3.47;3.47;3.58	5.16	-2.64	0.06114	.	1.365070	0.04217	N	0.332792	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.41142	-0.9525	10	0.23891	T	0.37	.	10.8751	0.46906	0.0:0.4358:0.0:0.5642	.	565;560;560;843	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	G	843;565;500;500;560	ENSP00000263666:S843G;ENSP00000442026:S565G;ENSP00000418168:S500G;ENSP00000418484:S500G;ENSP00000418624:S560G	ENSP00000263666:S843G	S	-	1	0	PDZRN3	73515880	0.002000	0.14202	0.001000	0.08648	0.194000	0.23727	1.306000	0.33505	-0.515000	0.06479	0.533000	0.62120	AGC		PASS	0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		11	20	11	20	---	---	---	---
NSUN3	63899	broad.mit.edu	37	3	93813893	93813893	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:93813893C>T	ENST00000314622.4	+	5	849	c.638C>T	c.(637-639)cCg>cTg	p.P213L		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	213							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.P213L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GTGGATGCTCCGTGTTCAAAT	0.408																																						uc003drl.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(637-639)CCG>CTG		NOL1/NOP2/Sun domain family, member 3							179.0	162.0	168.0					3																	93813893		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93813893C>T	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.638C>T	3.37:g.93813893C>T	ENSP00000318986:p.Pro213Leu						p.P213L	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			5	754	+			213					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.638C>T	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858514	0.91433	.	.	ENSG00000178694	ENST00000314622	T	0.53857	0.6	5.93	5.93	0.95920	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	D	0.85687	0.5754	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91094	0.4909	10	0.87932	D	0	-16.5888	20.3465	0.98790	0.0:1.0:0.0:0.0	.	213	Q9H649	NSUN3_HUMAN	L	213	ENSP00000318986:P213L	ENSP00000318986:P213L	P	+	2	0	NSUN3	95296583	1.000000	0.71417	0.991000	0.47740	0.814000	0.46013	6.043000	0.71004	2.798000	0.96311	0.655000	0.94253	CCG		PASS	0.408	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		12	34	12	34	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97887996	97887996	+	Silent	SNP	T	T	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:97887996T>G	ENST00000356526.2	+	1	453	c.453T>G	c.(451-453)gcT>gcG	p.A151A		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A151A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATATATAGCTGGTATTCTTC	0.373																																						uc011bgu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(451-453)GCT>GCG		olfactory receptor, family 5, subfamily H,							78.0	76.0	77.0					3																	97887996		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887996T>G		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.453T>G	3.37:g.97887996T>G							p.A151A	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	453	+			151			Helical; Name=4; (Potential).			Silent	SNP	ENST00000356526.2	37	c.453T>G	CCDS33799.1																																																																																				PASS	0.373	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			23	22	23	22	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105250889	105250889	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:105250889C>A	ENST00000306107.5	+	4	938	c.438C>A	c.(436-438)ctC>ctA	p.L146L	ALCAM_ENST00000472644.2_Silent_p.L146L|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Silent_p.L95L|ALCAM_ENST00000389927.4_5'Flank	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	146	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.L146L(3)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CACTGTTTCTCGAAACAGAGC	0.348																																						uc003dvx.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|breast(1)	3						c.(436-438)CTC>CTA		activated leukocyte cell adhesion molecule							143.0	152.0	149.0					3																	105250889		2203	4300	6503	SO:0001819	synonymous_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105250889C>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.438C>A	3.37:g.105250889C>A						ALCAM_uc003dvw.1_Silent_p.L146L|ALCAM_uc003dvy.2_Silent_p.L146L|ALCAM_uc011bhh.1_Silent_p.L95L|ALCAM_uc010hpp.2_5'Flank	p.L146L	NM_001627	NP_001618	Q13740	CD166_HUMAN			4	978	+			146			Extracellular (Potential).|Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	c.438C>A	CCDS33810.1																																																																																				PASS	0.348	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		6	128	6	128	---	---	---	---
LRRC58	116064	broad.mit.edu	37	3	120054684	120054684	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:120054684G>T	ENST00000295628.3	-	2	712	c.617C>A	c.(616-618)cCt>cAt	p.P206H		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	206								p.P206H(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TGAAAGTTGAGGAGGTATGCT	0.343																																						uc003edr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)CCT>CAT		leucine rich repeat containing 58							176.0	167.0	170.0					3																	120054684		1834	4099	5933	SO:0001583	missense	116064							g.chr3:120054684G>T	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.617C>A	3.37:g.120054684G>T	ENSP00000295628:p.Pro206His						p.P206H	NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	713	-			206			LRR 7.			Missense_Mutation	SNP	ENST00000295628.3	37	c.617C>A	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611790	0.66558	.	.	ENSG00000163428	ENST00000295628	T	0.60920	0.15	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	M	0.72479	2.2	0.80722	D	1	D	0.65815	0.995	D	0.65684	0.937	T	0.75847	-0.3173	10	0.56958	D	0.05	-10.3844	15.935	0.79694	0.0:0.0:1.0:0.0	.	206	Q96CX6	LRC58_HUMAN	H	206	ENSP00000295628:P206H	ENSP00000295628:P206H	P	-	2	0	LRRC58	121537374	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	8.773000	0.91762	2.428000	0.82296	0.585000	0.79938	CCT		PASS	0.343	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		6	72	6	72	---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121649761	121649761	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:121649761A>G	ENST00000489711.1	+	18	2016	c.1628A>G	c.(1627-1629)tAt>tGt	p.Y543C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.Y512C|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	543					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.Y543C(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGTGAAGACTATGGTGTGTCT	0.368																																						uc003eep.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1627-1629)TAT>TGT		peptide transporter 2 isoform a	Cefadroxil(DB01140)						183.0	173.0	177.0					3																	121649761		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121649761A>G	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1628A>G	3.37:g.121649761A>G	ENSP00000417085:p.Tyr543Cys					SLC15A2_uc011bjn.1_Missense_Mutation_p.Y512C	p.Y543C	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	18	1781	+			543					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1628A>G	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282223	0.59867	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.02916	4.38;4.11	5.42	1.64	0.23874	.	0.556303	0.20339	N	0.094278	T	0.07413	0.0187	M	0.77616	2.38	0.41999	D	0.990888	D;D	0.62365	0.983;0.991	P;P	0.54965	0.765;0.682	T	0.24154	-1.0168	10	0.51188	T	0.08	-1.374	2.0056	0.03477	0.5814:0.1694:0.087:0.1622	.	512;543	B4E2A7;Q16348	.;S15A2_HUMAN	C	543;505;512	ENSP00000417085:Y543C;ENSP00000295605:Y512C	ENSP00000295605:Y512C	Y	+	2	0	SLC15A2	123132451	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.882000	0.48546	0.130000	0.18549	0.528000	0.53228	TAT		PASS	0.368	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		16	41	16	41	---	---	---	---
PARP15	165631	broad.mit.edu	37	3	122353965	122353965	+	Silent	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:122353965C>G	ENST00000464300.2	+	11	1737	c.1671C>G	c.(1669-1671)ctC>ctG	p.L557L	PARP15_ENST00000483793.1_Silent_p.L362L|PARP15_ENST00000310366.4_Silent_p.L323L|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Silent_p.L254L	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	557	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L323L(1)|p.L557L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AGAGACTCCTCTTCCATGGGA	0.418																																						uc003efm.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1669-1671)CTC>CTG		poly (ADP-ribose) polymerase family, member 15							88.0	79.0	82.0					3																	122353965		2203	4300	6503	SO:0001819	synonymous_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122353965C>G	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1671C>G	3.37:g.122353965C>G						PARP15_uc003efn.2_Silent_p.L362L|PARP15_uc003efo.1_Silent_p.L304L|PARP15_uc003efp.1_Silent_p.L323L|PARP15_uc011bjt.1_Silent_p.L254L	p.L557L	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	11	1737	+			535			PARP catalytic.		J3KR47|Q8N1K3	Silent	SNP	ENST00000464300.2	37	c.1671C>G	CCDS46893.1																																																																																				PASS	0.418	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		24	37	24	37	---	---	---	---
C3orf58	205428	broad.mit.edu	37	3	143708453	143708453	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:143708453A>G	ENST00000315691.3	+	3	1598	c.1063A>G	c.(1063-1065)Act>Gct	p.T355A	C3orf58_ENST00000495414.1_Missense_Mutation_p.T146A|C3orf58_ENST00000441925.2_Missense_Mutation_p.T117A|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	355					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.T355A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTCGTGCCACTGTGGACCA	0.433																																						uc003evo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1063-1065)ACT>GCT		hypothetical protein LOC205428 isoform a							126.0	119.0	121.0					3																	143708453		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143708453A>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1063A>G	3.37:g.143708453A>G	ENSP00000320081:p.Thr355Ala					C3orf58_uc011bnl.1_Missense_Mutation_p.T146A	p.T355A	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			3	1598	+			355					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.1063A>G	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189057	0.38707	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.30714	1.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.54323	1.7	0.58432	D	0.99999	P;D	0.56035	0.527;0.974	B;D	0.67725	0.129;0.953	T	0.29761	-1.0001	10	0.16420	T	0.52	.	15.8142	0.78586	1.0:0.0:0.0:0.0	.	146;355	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	A	355;146;161;117	ENSP00000320081:T355A	ENSP00000320081:T355A	T	+	1	0	C3orf58	145191143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.143000	0.66587	0.533000	0.62120	ACT		PASS	0.433	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		11	57	11	57	---	---	---	---
GPR171	29909	broad.mit.edu	37	3	150916412	150916412	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:150916412T>C	ENST00000309180.5	-	3	992	c.762A>G	c.(760-762)atA>atG	p.I254M	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	254					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I254M(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATCAGTTATGACTTCTG	0.463																																						uc003eyq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)ATA>ATG		G protein-coupled receptor 171							111.0	108.0	109.0					3																	150916412		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916412T>C	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.762A>G	3.37:g.150916412T>C	ENSP00000308479:p.Ile254Met					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.I254M	NM_013308	NP_037440	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1002	-			254			Extracellular (Potential).		D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.762A>G	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.459781	0.43736	.	.	ENSG00000174946	ENST00000309180	T	0.20598	2.06	5.61	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.054487	0.64402	D	0.000003	T	0.34019	0.0883	L	0.43152	1.355	0.24320	N	0.995045	D	0.65815	0.995	D	0.66716	0.946	T	0.19745	-1.0296	10	0.37606	T	0.19	-16.0066	14.3894	0.66968	0.0:0.0:0.4835:0.5165	.	254	O14626	GP171_HUMAN	M	254	ENSP00000308479:I254M	ENSP00000308479:I254M	I	-	3	3	GPR171	152399102	0.002000	0.14202	0.453000	0.27007	0.983000	0.72400	-0.109000	0.10840	0.349000	0.23975	0.528000	0.53228	ATA		PASS	0.463	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		16	51	16	51	---	---	---	---
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606697	159606697	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:159606697A>T	ENST00000460298.1	+	6	1404	c.1163A>T	c.(1162-1164)cAa>cTa	p.Q388L	SCHIP1_ENST00000482804.1_Missense_Mutation_p.Q201L|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.Q415L|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.Q504L|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.Q477L|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.Q196L|SCHIP1_ENST00000445224.2_Missense_Mutation_p.Q185L|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.Q428L					IQCJ-SCHIP1 readthrough									p.Q504L(1)|p.Q428L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GGGCAGCTACAAGTGATAGTC	0.378																																						uc003fcs.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1282-1284)CAA>CTA		schwannomin interacting protein 1							132.0	121.0	125.0					3																	159606697		2203	4300	6503	SO:0001583	missense	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159606697A>T		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1163A>T	3.37:g.159606697A>T	ENSP00000417305:p.Gln388Leu					SCHIP1_uc003fcq.1_Missense_Mutation_p.Q504L|SCHIP1_uc003fcr.1_Missense_Mutation_p.Q417L|SCHIP1_uc003fct.1_Missense_Mutation_p.Q415L|SCHIP1_uc010hvz.1_Missense_Mutation_p.Q388L|SCHIP1_uc003fcu.1_Missense_Mutation_p.Q185L|SCHIP1_uc003fcv.1_Missense_Mutation_p.Q201L	p.Q428L	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		6	1349	+			428			Potential.			Missense_Mutation	SNP	ENST00000460298.1	37	c.1283A>T		.	.	.	.	.	.	.	.	.	.	A	32	5.115720	0.94339	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.61703	1.905	0.80722	D	1	D;D;P;D;D;D	0.69078	0.997;0.985;0.908;0.996;0.997;0.996	D;D;P;D;D;D	0.80764	0.994;0.982;0.888;0.99;0.994;0.99	T	0.73398	-0.3995	10	0.87932	D	0	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	388;201;185;415;428;504	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	L	477;504;428;415;196;388;185;201	ENSP00000418692:Q477L;ENSP00000420182:Q504L;ENSP00000337239:Q428L;ENSP00000400942:Q415L;ENSP00000436076:Q196L;ENSP00000417305:Q388L;ENSP00000404860:Q185L;ENSP00000419230:Q201L	ENSP00000337239:Q428L	Q	+	2	0	SCHIP1;IQCJ-SCHIP1	161089391	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	8.780000	0.91799	2.254000	0.74563	0.533000	0.62120	CAA		PASS	0.378	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		6	58	6	58	---	---	---	---
BDH1	622	broad.mit.edu	37	3	197238877	197238877	+	Silent	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:197238877G>A	ENST00000392378.2	-	7	1231	c.921C>T	c.(919-921)acC>acT	p.T307T	BDH1_ENST00000358186.2_Silent_p.T307T|BDH1_ENST00000441275.1_Silent_p.T220T|BDH1_ENST00000392379.1_Silent_p.T307T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	307					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)	p.T307T(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GGGTGGTGGCGGTCAGGGCGT	0.562																																						uc003fxr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(919-921)ACC>ACT		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						179.0	153.0	162.0					3																	197238877		2203	4300	6503	SO:0001819	synonymous_variant	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238877G>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.921C>T	3.37:g.197238877G>A						BDH1_uc003fxs.2_Silent_p.T307T|BDH1_uc003fxt.2_Silent_p.T220T|BDH1_uc003fxu.2_Silent_p.T307T	p.T307T	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1323	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	307					D3DXC0|Q96ET1|Q9BRZ4	Silent	SNP	ENST00000392378.2	37	c.921C>T	CCDS3328.1																																																																																				PASS	0.562	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		15	69	15	69	---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16189952	16189952	+	Silent	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:16189952A>G	ENST00000405303.2	-	5	722	c.639T>C	c.(637-639)ttT>ttC	p.F213F	TAPT1_ENST00000304584.8_Silent_p.F39F|TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Silent_p.F102F	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	213					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)	p.F213F(1)		NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TGTCTTGTCCAAAAGATGAAA	0.323																																						uc010ied.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)TTT>TTC		transmembrane anterior posterior transformation							38.0	37.0	37.0					4																	16189952		1798	4068	5866	SO:0001819	synonymous_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16189952A>G	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.639T>C	4.37:g.16189952A>G						TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Silent_p.F102F	p.F213F	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN			5	720	-			213					Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	c.639T>C	CCDS47030.1																																																																																				PASS	0.323	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		9	17	9	17	---	---	---	---
MED28	80306	broad.mit.edu	37	4	17623209	17623209	+	Splice_Site	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:17623209G>T	ENST00000237380.7	+	3	250		c.e3-1			NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)		p.?(1)		lung(6)|skin(2)	8						TTTTTTTTAAGGTGTTGATCA	0.313																																						uc003gpi.1																			1	Unknown(1)		lung(1)		0						c.e3-1		mediator complex subunit 28							37.0	40.0	39.0					4																	17623209		2197	4298	6495	SO:0001630	splice_region_variant	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17623209G>T	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.227-1G>T	4.37:g.17623209G>T						MED28_uc003gpj.2_Splice_Site	p.G76_splice	NM_025205	NP_079481	Q9H204	MED28_HUMAN			3	239	+								Q9BZJ5	Splice_Site	SNP	ENST00000237380.7	37	c.227_splice	CCDS33963.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887612	0.52014	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	4.64	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1521	0.59494	0.0786:0.0:0.9214:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED28	17232307	1.000000	0.71417	0.992000	0.48379	0.720000	0.41350	9.513000	0.98010	1.084000	0.41184	0.462000	0.41574	.		PASS	0.313	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205	Intron	6	17	6	17	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38138765	38138765	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:38138765G>T	ENST00000261439.4	+	20	3671	c.3316G>T	c.(3316-3318)Ggt>Tgt	p.G1106C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.G1097C|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1106					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.G1106C(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGTGGCAAATGGTAGGATCCA	0.527																																						uc003gtb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3316-3318)GGT>TGT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							77.0	76.0	76.0					4																	38138765		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38138765G>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3316G>T	4.37:g.38138765G>T	ENSP00000261439:p.Gly1106Cys					TBC1D1_uc011byd.1_Missense_Mutation_p.G1097C|TBC1D1_uc010ifd.2_Missense_Mutation_p.G893C|TBC1D1_uc003gtd.2_Missense_Mutation_p.G118C	p.G1106C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			20	3659	+			1106					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.3316G>T	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.02|14.02	2.409416|2.409416	0.42715|0.42715	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732|ENST00000510573	T;T|.	0.04454|.	3.62;4.01|.	5.16|5.16	-1.94|-1.94	0.07571|0.07571	.|.	0.690178|.	0.14223|.	N|.	0.333248|.	T|T	0.40570|0.40570	0.1122|0.1122	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999995|0.999995	P;P;P|.	0.45348|.	0.856;0.856;0.529|.	B;B;B|.	0.40101|.	0.319;0.219;0.289|.	T|T	0.40664|0.40664	-0.9551|-0.9551	10|5	0.72032|.	D|.	0.01|.	-1.2243|-1.2243	10.6404|10.6404	0.45590|0.45590	0.4919:0.0:0.5081:0.0|0.4919:0.0:0.5081:0.0	.|.	1097;838;1106|.	E9PGH8;Q6PJJ8;Q86TI0|.	.;.;TBCD1_HUMAN|.	C|L	1097;1106;370|793	ENSP00000423651:G1097C;ENSP00000261439:G1106C|.	ENSP00000261439:G1106C|.	G|W	+|+	1|2	0|0	TBC1D1|TBC1D1	37815160|37815160	0.828000|0.828000	0.29307|0.29307	0.031000|0.031000	0.17742|0.17742	0.777000|0.777000	0.43975|0.43975	0.892000|0.892000	0.28322|0.28322	-0.746000|-0.746000	0.04766|0.04766	0.650000|0.650000	0.86243|0.86243	GGT|TGG		PASS	0.527	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		6	181	6	181	---	---	---	---
PHOX2B	8929	broad.mit.edu	37	4	41750460	41750460	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:41750460G>T	ENST00000226382.2	-	1	527	c.168C>A	c.(166-168)ggC>ggA	p.G56G	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	56					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.G56G(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGGAAGGGCAGCCGGACGTGG	0.622			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.3			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		1	Substitution - coding silent(1)		lung(1)	autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(166-168)GGC>GGA		paired-like homeobox 2b							40.0	41.0	41.0					4																	41750460		2203	4300	6503	SO:0001819	synonymous_variant	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41750460G>T	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.168C>A	4.37:g.41750460G>T							p.G56G	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			1	528	-			56					Q6PJD9	Silent	SNP	ENST00000226382.2	37	c.168C>A	CCDS3463.1																																																																																				PASS	0.622	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			6	44	6	44	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46305516	46305516	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:46305516A>G	ENST00000510861.1	-	8	990	c.817T>C	c.(817-819)Tgg>Cgg	p.W273R	GABRA2_ENST00000514090.1_Missense_Mutation_p.W273R|GABRA2_ENST00000540012.1_Missense_Mutation_p.W218R|GABRA2_ENST00000515082.1_Missense_Mutation_p.W273R|GABRA2_ENST00000507069.1_Missense_Mutation_p.W273R|GABRA2_ENST00000356504.1_Missense_Mutation_p.W273R|GABRA2_ENST00000381620.4_Missense_Mutation_p.W273R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	273					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.W273R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGTTAAGCCAGAATGAAACT	0.383																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(817-819)TGG>CGG		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						125.0	121.0	122.0					4																	46305516		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46305516A>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.817T>C	4.37:g.46305516A>G	ENSP00000421828:p.Trp273Arg					GABRA2_uc010igc.2_Missense_Mutation_p.W273R|GABRA2_uc011bzc.1_Missense_Mutation_p.W218R|GABRA2_uc003gxe.2_Missense_Mutation_p.W273R	p.W273R	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			7	1490	-			273			Helical; (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.817T>C	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.330397	0.81690	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	H	0.96916	3.905	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.996;0.978;1.0	D	0.97637	1.0146	10	0.87932	D	0	.	14.4951	0.67680	1.0:0.0:0.0:0.0	.	218;273;273	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	R	273;273;273;273;218;273;273	ENSP00000421828:W273R;ENSP00000421300:W273R;ENSP00000371033:W273R;ENSP00000348897:W273R;ENSP00000444409:W218R;ENSP00000427603:W273R;ENSP00000423840:W273R	ENSP00000348897:W273R	W	-	1	0	GABRA2	46000273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.081000	0.62600	0.533000	0.62120	TGG		PASS	0.383	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			30	47	30	47	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319142	54319142	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:54319142C>A	ENST00000337488.6	+	16	1535	c.1341C>A	c.(1339-1341)acC>acA	p.T447T	FIP1L1_ENST00000306932.6_Silent_p.T373T|FIP1L1_ENST00000358575.5_Silent_p.T441T|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	447	Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T447T(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTGTGGACACCAGCAAGCAGT	0.458			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003gzy.2				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1339-1341)ACC>ACA		FIP1 like 1 isoform 1							137.0	124.0	129.0					4																	54319142		2203	4300	6503	SO:0001819	synonymous_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319142C>A	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1341C>A	4.37:g.54319142C>A						PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Silent_p.T441T|FIP1L1_uc003gzz.2_Silent_p.T373T|FIP1L1_uc003hab.2_Silent_p.T412T|FIP1L1_uc003hac.2_Silent_p.T201T|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.P32Q|FIP1L1_uc003hae.2_Missense_Mutation_p.P32Q	p.T447T	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1527	+			447			Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Silent	SNP	ENST00000337488.6	37	c.1341C>A	CCDS3491.1																																																																																				PASS	0.458	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		5	94	5	94	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62453133	62453133	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:62453133G>C	ENST00000514591.1	+	4	573	c.244G>C	c.(244-246)Gat>Cat	p.D82H	LPHN3_ENST00000507164.1_Missense_Mutation_p.D150H|LPHN3_ENST00000506746.1_Missense_Mutation_p.D150H|LPHN3_ENST00000506700.1_Missense_Mutation_p.D82H|LPHN3_ENST00000511324.1_Missense_Mutation_p.D150H|LPHN3_ENST00000508946.1_Missense_Mutation_p.D82H|LPHN3_ENST00000512091.2_Missense_Mutation_p.D82H|LPHN3_ENST00000509896.1_Missense_Mutation_p.D150H|LPHN3_ENST00000514996.1_Missense_Mutation_p.D82H|LPHN3_ENST00000504896.1_Missense_Mutation_p.D82H|LPHN3_ENST00000514157.1_Missense_Mutation_p.D82H|LPHN3_ENST00000506720.1_Missense_Mutation_p.D150H|LPHN3_ENST00000507625.1_Missense_Mutation_p.D150H|LPHN3_ENST00000508693.1_Missense_Mutation_p.D150H|LPHN3_ENST00000545650.1_Missense_Mutation_p.D82H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	82	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.D82H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTATCTGCCAGATGCCTATAA	0.373																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(244-246)GAT>CAT		latrophilin 3 precursor							80.0	79.0	80.0					4																	62453133		1905	4136	6041	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62453133G>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.244G>C	4.37:g.62453133G>C	ENSP00000422533:p.Asp82His					LPHN3_uc003hcq.3_Missense_Mutation_p.D82H|LPHN3_uc010ihg.1_Missense_Mutation_p.D150H	p.D82H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			2	417	+			82			SUEL-type lectin.|Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.244G>C	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516683	0.85495	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.47190	1.495	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.995	T	0.05784	-1.0864	10	0.87932	D	0	.	18.5424	0.91033	0.0:0.0:1.0:0.0	.	82;150;82	E9PE04;E7EN28;Q9HAR2-2	.;.;.	H	82;82;150;150;82;82;82;82;82;150;150;150;82;82;82;150;150;82	ENSP00000423388:D82H;ENSP00000422533:D82H;ENSP00000423787:D150H;ENSP00000425033:D150H;ENSP00000424120:D82H;ENSP00000439831:D82H;ENSP00000421476:D150H;ENSP00000424030:D150H;ENSP00000421372:D150H;ENSP00000425201:D82H;ENSP00000423434:D82H;ENSP00000421627:D82H;ENSP00000420931:D150H;ENSP00000425884:D150H;ENSP00000424258:D82H	ENSP00000280009:D82H	D	+	1	0	LPHN3	62135728	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.553000	0.98118	2.694000	0.91930	0.585000	0.79938	GAT		PASS	0.373	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			8	11	8	11	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62845347	62845347	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:62845347G>A	ENST00000514591.1	+	17	2997	c.2668G>A	c.(2668-2670)Gtt>Att	p.V890I	LPHN3_ENST00000507164.1_Missense_Mutation_p.V958I|LPHN3_ENST00000506746.1_Missense_Mutation_p.V958I|LPHN3_ENST00000506700.1_Missense_Mutation_p.V890I|LPHN3_ENST00000511324.1_Missense_Mutation_p.V958I|LPHN3_ENST00000508946.1_Missense_Mutation_p.V890I|LPHN3_ENST00000512091.2_Missense_Mutation_p.V890I|LPHN3_ENST00000509896.1_Missense_Mutation_p.V958I|LPHN3_ENST00000514996.1_Missense_Mutation_p.V890I|LPHN3_ENST00000504896.1_Missense_Mutation_p.V890I|LPHN3_ENST00000514157.1_Missense_Mutation_p.V890I|LPHN3_ENST00000506720.1_Missense_Mutation_p.V958I|LPHN3_ENST00000507625.1_Missense_Mutation_p.V958I|LPHN3_ENST00000508693.1_Missense_Mutation_p.V958I|LPHN3_ENST00000545650.1_Missense_Mutation_p.V890I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	877					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.V890I(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTGTCCCTTGTTTGTCTCCT	0.478																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2668-2670)GTT>ATT		latrophilin 3 precursor							318.0	314.0	315.0					4																	62845347		2011	4201	6212	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845347G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2668G>A	4.37:g.62845347G>A	ENSP00000422533:p.Val890Ile					LPHN3_uc003hcq.3_Missense_Mutation_p.V890I|LPHN3_uc003hct.2_Missense_Mutation_p.V283I	p.V890I	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			15	2841	+			877			Helical; Name=1; (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2668G>A	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.032973|4.032973	0.75504|0.75504	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37752	.|1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.5|5.5	5.5|5.5	0.81552|0.81552	.|GPCR, family 2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49150|0.49150	0.1540|0.1540	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.69078	.|0.997;0.997;0.996	.|D;D;D	.|0.79108	.|0.992;0.992;0.987	T|T	0.44406|0.44406	-0.9330|-0.9330	5|10	.|0.42905	.|T	.|0.14	.|.	19.0068|19.0068	0.92854|0.92854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|890;877;890	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	Y|I	347|890;890;958;958;890;890;877;890;958;958;958;890;890;890;958;958;890	.|ENSP00000423388:V890I;ENSP00000422533:V890I;ENSP00000423787:V958I;ENSP00000425033:V958I;ENSP00000424120:V890I;ENSP00000439831:V890I;ENSP00000421476:V958I;ENSP00000424030:V958I;ENSP00000421372:V958I;ENSP00000425201:V890I;ENSP00000423434:V890I;ENSP00000421627:V890I;ENSP00000420931:V958I;ENSP00000425884:V958I;ENSP00000424258:V890I	.|ENSP00000280009:V890I	C|V	+|+	2|1	0|0	LPHN3|LPHN3	62527942|62527942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.818000|7.818000	0.86416|0.86416	2.580000|2.580000	0.87095|0.87095	0.467000|0.467000	0.42956|0.42956	TGT|GTT		PASS	0.478	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			45	147	45	147	---	---	---	---
PPM1K	152926	broad.mit.edu	37	4	89189398	89189398	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:89189398C>A	ENST00000608933.1	-	5	1185	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	PPM1K_ENST00000508256.1_Missense_Mutation_p.D47Y|PPM1K_ENST00000295908.7_Missense_Mutation_p.D266Y|PPM1K_ENST00000506423.1_5'Flank	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	266	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.D266Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AGGTCCAAATCTCCAATACTT	0.428																																						uc003hrm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)GAT>TAT		protein phosphatase 1K (PP2C domain containing)							185.0	168.0	174.0					4																	89189398		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89189398C>A	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.796G>T	4.37:g.89189398C>A	ENSP00000477341:p.Asp266Tyr						p.D266Y	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	5	1186	-		Hepatocellular(203;0.114)	266			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.796G>T	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476524	0.84640	.	.	ENSG00000163644	ENST00000295908	T	0.29655	1.56	4.85	4.85	0.62838	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83970	0.0326	10	0.87932	D	0	-20.6931	17.2674	0.87090	0.0:1.0:0.0:0.0	.	266	Q8N3J5	PPM1K_HUMAN	Y	266	ENSP00000295908:D266Y	ENSP00000295908:D266Y	D	-	1	0	PPM1K	89408422	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.496000	0.81526	2.686000	0.91538	0.591000	0.81541	GAT		PASS	0.428	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		16	63	16	63	---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113569220	113569220	+	Intron	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:113569220A>G	ENST00000344442.5	+	8	1420				MIR302B_ENST00000510655.1_RNA|MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Intron|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|LARP7_ENST00000509061.1_Intron|MIR302B_ENST00000505215.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7						RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCCATGTTAAAGTAGAGGGGG	0.358																																						hsa-mir-302d|MI0000774																			0					0															66.0	55.0	58.0					4																	113569220		1568	3582	5150	SO:0001627	intron_variant	442896							g.chr4:113569220A>G	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1142+230A>G	4.37:g.113569220A>G						LARP7_uc003iay.2_Intron|LARP7_uc003iaz.2_Intron|LARP7_uc003iba.2_Intron|LARP7_uc003ibb.2_Intron|uc011cfy.1_5'Flank|MIR367_hsa-mir-367|MI0000775_5'Flank										-								B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	RNA	SNP	ENST00000344442.5	37	c.8A>G	CCDS3701.2																																																																																				PASS	0.358	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		10	20	10	20	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122254088	122254088	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:122254088C>A	ENST00000394427.2	-	4	1096	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	QRFPR_ENST00000334383.5_Splice_Site	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	229				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.V229L(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATAAGCATCACCATAAGAGGC	0.428																																						uc010inj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)GTG>TTG		G protein-coupled receptor 103							120.0	108.0	112.0					4																	122254088		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122254088C>A	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.685G>T	4.37:g.122254088C>A	ENSP00000377948:p.Val229Leu					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Splice_Site_p.M228_splice	p.V229L	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			4	1064	-			229	VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.685G>T	CCDS3719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.53|15.53	2.861624|2.861624	0.51482|0.51482	.|.	.|.	ENSG00000186867|ENSG00000186867	ENST00000334383|ENST00000394427	.|T	.|0.36157	.|1.27	6.06|6.06	2.08|2.08	0.27032|0.27032	.|GPCR, rhodopsin-like superfamily (1);	.|0.565193	.|0.19040	.|N	.|0.124315	.|T	.|0.20740	.|0.0499	N|N	0.16862|0.16862	0.45|0.45	0.80722|0.80722	D|D	1|1	.|B	.|0.13594	.|0.008	.|B	.|0.21360	.|0.034	.|T	.|0.06162	.|-1.0842	.|10	.|0.09084	.|T	.|0.74	.|.	12.8748|12.8748	0.57984|0.57984	0.1767:0.3441:0.4791:0.0|0.1767:0.3441:0.4791:0.0	.|.	.|229	.|Q96P65	.|QRFPR_HUMAN	.|L	-1|229	.|ENSP00000377948:V229L	.|ENSP00000377948:V229L	.|V	-|-	.|1	.|0	QRFPR|QRFPR	122473538|122473538	0.018000|0.018000	0.18449|0.18449	0.980000|0.980000	0.43619|0.43619	0.987000|0.987000	0.75469|0.75469	-0.053000|-0.053000	0.11846|0.11846	0.378000|0.378000	0.24764|0.24764	0.655000|0.655000	0.94253|0.94253	.|GTG		PASS	0.428	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		13	38	13	38	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153249410	153249410	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:153249410G>T	ENST00000281708.4	-	9	2597	c.1368C>A	c.(1366-1368)acC>acA	p.T456T	FBXW7_ENST00000603841.1_Silent_p.T456T|FBXW7_ENST00000296555.5_Silent_p.T338T|FBXW7_ENST00000603548.1_Silent_p.T456T|FBXW7_ENST00000393956.3_Silent_p.T280T|FBXW7_ENST00000263981.5_Silent_p.T376T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	456					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.T456T(2)|p.T338T(1)|p.T376T(1)|p.?(1)|p.T217T(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCCCATATAAGGTGTGTATAC	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - coding silent(5)|Unknown(1)		lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1366-1368)ACC>ACA		F-box and WD repeat domain containing 7 isoform							304.0	256.0	272.0					4																	153249410		2203	4300	6503	SO:0001819	synonymous_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153249410G>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1368C>A	4.37:g.153249410G>T						FBXW7_uc011cii.1_Silent_p.T456T|FBXW7_uc003imt.2_Silent_p.T456T|FBXW7_uc011cih.1_Silent_p.T280T|FBXW7_uc003imq.2_Silent_p.T376T|FBXW7_uc003imr.2_Silent_p.T338T	p.T456T	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			9	1517	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	456			WD 2.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	c.1368C>A	CCDS3777.1																																																																																				PASS	0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			5	73	5	73	---	---	---	---
PDGFC	56034	broad.mit.edu	37	4	157693940	157693940	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:157693940G>C	ENST00000502773.1	-	4	1091	c.601C>G	c.(601-603)Cga>Gga	p.R201G	PDGFC_ENST00000422544.2_Missense_Mutation_p.R201G|PDGFC_ENST00000542208.1_Missense_Mutation_p.R46G|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.R38G	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	201					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.R201G(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCAAGATATCGAATAAGGTCT	0.438																																						uc003iph.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(601-603)CGA>GGA		platelet-derived growth factor C precursor							98.0	95.0	96.0					4																	157693940		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157693940G>C	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.601C>G	4.37:g.157693940G>C	ENSP00000422464:p.Arg201Gly					PDGFC_uc003ipi.1_Missense_Mutation_p.R38G|PDGFC_uc011cis.1_Missense_Mutation_p.R38G|PDGFC_uc011cir.1_Missense_Mutation_p.R45G	p.R201G	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	4	1092	-	all_hematologic(180;0.24)	Renal(120;0.0458)	201					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.601C>G	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361858	0.61403	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208;ENST00000422544	T;T;T;T	0.52057	2.16;0.68;0.69;2.1	5.45	5.45	0.79879	.	0.055889	0.64402	D	0.000002	T	0.58666	0.2138	M	0.75447	2.3	0.52501	D	0.999952	D;D	0.58620	0.983;0.983	P;P	0.51806	0.549;0.68	T	0.62067	-0.6932	10	0.54805	T	0.06	-28.8873	13.1777	0.59637	0.0:0.0:0.7218:0.2782	.	46;201	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	G	201;38;46;201	ENSP00000422464:R201G;ENSP00000442943:R38G;ENSP00000439728:R46G;ENSP00000410048:R201G	ENSP00000410048:R201G	R	-	1	2	PDGFC	157913390	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	5.582000	0.67477	2.711000	0.92665	0.563000	0.77884	CGA		PASS	0.438	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			4	17	4	17	---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159092200	159092200	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:159092200T>C	ENST00000296530.8	-	2	949	c.328A>G	c.(328-330)Acc>Gcc	p.T110A	FAM198B_ENST00000393807.5_Missense_Mutation_p.T110A|FAM198B_ENST00000592057.1_Missense_Mutation_p.T110A|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.T110A|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	110						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T110A(3)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GAGCGTAGGGTAATGTACACC	0.622																																						uc003ipp.3																			3	Substitution - Missense(3)		lung(3)		0						c.(328-330)ACC>GCC		hypothetical protein LOC51313 isoform 2							80.0	78.0	79.0					4																	159092200		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159092200T>C		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.328A>G	4.37:g.159092200T>C	ENSP00000296530:p.Thr110Ala					uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.T110A|FAM198B_uc003ipr.3_Missense_Mutation_p.T110A|FAM198B_uc003ips.2_Missense_Mutation_p.T110A|uc003ipt.1_RNA	p.T110A	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			2	780	-			110			Extracellular (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.328A>G	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451013	0.84209	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.44482	0.99;0.92	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.971	D;D;P	0.69654	0.965;0.923;0.832	T	0.65792	-0.6082	10	0.72032	D	0.01	-4.5248	15.0036	0.71495	0.0:0.0:0.0:1.0	.	110;110;110	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	A	110	ENSP00000296530:T110A;ENSP00000377396:T110A	ENSP00000296530:T110A	T	-	1	0	FAM198B	159311650	1.000000	0.71417	0.978000	0.43139	0.985000	0.73830	6.976000	0.76135	2.140000	0.66376	0.533000	0.62120	ACC		PASS	0.622	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		5	51	5	51	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897024	175897024	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:175897024C>A	ENST00000359240.3	+	5	1018	c.348C>A	c.(346-348)ctC>ctA	p.L116L	ADAM29_ENST00000514159.1_Silent_p.L116L|ADAM29_ENST00000404450.4_Silent_p.L116L|ADAM29_ENST00000445694.1_Silent_p.L116L|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	116					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L116L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGTTTCCCTCAGTACCTGTT	0.438																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(346-348)CTC>CTA		ADAM metallopeptidase domain 29 preproprotein							66.0	69.0	68.0					4																	175897024		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897024C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.348C>A	4.37:g.175897024C>A						ADAM29_uc003iud.2_Silent_p.L116L|ADAM29_uc010irr.2_Silent_p.L116L|ADAM29_uc011cki.1_Silent_p.L116L	p.L116L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1018	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	116					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.348C>A	CCDS3823.1																																																																																				PASS	0.438	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				6	31	6	31	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183676047	183676047	+	Silent	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr4:183676047C>T	ENST00000511685.1	+	22	4650	c.4527C>T	c.(4525-4527)aaC>aaT	p.N1509N	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.N1509N			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1509					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N1509N(1)									ACTCTATGAACTTCTATGAAG	0.413																																						uc003ivd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(4525-4527)AAC>AAT		odz, odd Oz/ten-m homolog 3							83.0	82.0	82.0					4																	183676047		1907	4115	6022	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183676047C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4527C>T	4.37:g.183676047C>T						ODZ3_uc003ive.1_Silent_p.N922N	p.N1509N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	21	4564	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1509			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.4527C>T	CCDS47165.1																																																																																				PASS	0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			11	49	11	49	---	---	---	---
MRPL36	64979	broad.mit.edu	37	5	1799040	1799040	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:1799040G>A	ENST00000508987.1	-	2	146	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	MRPL36_ENST00000505818.1_Missense_Mutation_p.L4F|MRPL36_ENST00000505059.2_Missense_Mutation_p.L4F|NDUFS6_ENST00000469176.1_5'Flank|NDUFS6_ENST00000274137.5_5'Flank|MRPL36_ENST00000382647.7_Missense_Mutation_p.L4F			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	4					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)	p.L4F(1)		breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		CTTATAAAAAGATTTGCCATG	0.448																																						uc003jcx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)CTT>TTT		mitochondrial ribosomal protein L36 precursor							56.0	65.0	62.0					5																	1799040		2202	4300	6502	SO:0001583	missense	64979				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr5:1799040G>A	AB049654	CCDS3865.1	5p15.3	2012-09-13			ENSG00000171421	ENSG00000171421		"""Mitochondrial ribosomal proteins / large subunits"""	14490	protein-coding gene	gene with protein product	"""putative BRCA1-interacting protein"", ""39S ribosomal protein L36, mitochondrial"""	611842				11543634	Standard	NM_032479		Approved	BRIP1, RPMJ, L36mt, PRPL36, MRP-L36	uc003jcx.4	Q9P0J6	OTTHUMG00000090373	ENST00000508987.1:c.10C>T	5.37:g.1799040G>A	ENSP00000423399:p.Leu4Phe					NDUFS6_uc003jcy.2_5'Flank	p.L4F	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN		GBM - Glioblastoma multiforme(108;0.241)	2	73	-			4					A4UCS0|B2R4Z2|Q3SWV6|Q9UKL7	Missense_Mutation	SNP	ENST00000508987.1	37	c.10C>T	CCDS3865.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618968	0.46736	.	.	ENSG00000171421	ENST00000505818;ENST00000382647;ENST00000505059;ENST00000508987;ENST00000510999	.	.	.	3.62	0.695	0.18070	.	0.764676	0.10715	N	0.642452	T	0.20414	0.0491	N	0.24115	0.695	0.09310	N	1	P	0.48911	0.917	B	0.41813	0.367	T	0.12041	-1.0563	9	0.59425	D	0.04	-2.924	7.9479	0.29998	0.1125:0.1887:0.6987:0.0	.	4	Q9P0J6	RM36_HUMAN	F	4	.	ENSP00000372093:L4F	L	-	1	0	MRPL36	1852040	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.593000	0.23999	-0.207000	0.10187	0.485000	0.47835	CTT		PASS	0.448	MRPL36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365908.2	NM_032479		5	91	5	91	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7789771	7789771	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:7789771G>T	ENST00000338316.4	+	20	2575	c.2486G>T	c.(2485-2487)aGg>aTg	p.R829M	ADCY2_ENST00000537121.1_Missense_Mutation_p.R649M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	829					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R829M(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATTACTGTAGGTTAGACTTC	0.438																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2485-2487)AGG>ATG		adenylate cyclase 2							113.0	123.0	120.0					5																	7789771		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789771G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2486G>T	5.37:g.7789771G>T	ENSP00000342952:p.Arg829Met					ADCY2_uc011cmo.1_Missense_Mutation_p.R649M|ADCY2_uc010itm.1_Missense_Mutation_p.R25M	p.R829M	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			20	2553	+			829			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2486G>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887390	0.72410	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.87029	-1.77;-2.2	5.23	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.95252	0.8460	H	0.94423	3.535	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96469	0.9347	10	0.87932	D	0	.	15.7602	0.78073	0.0:0.1368:0.8632:0.0	.	649;829	B7Z2C1;Q08462	.;ADCY2_HUMAN	M	829;662;649	ENSP00000342952:R829M;ENSP00000444803:R649M	ENSP00000342952:R829M	R	+	2	0	ADCY2	7842771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.509000	0.98002	1.181000	0.42912	0.591000	0.81541	AGG		PASS	0.438	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	137	6	137	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24593512	24593512	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:24593512G>T	ENST00000264463.4	-	2	595	c.88C>A	c.(88-90)Cct>Act	p.P30T	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	30					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P30T(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTGGCACAGGCGTCCTTCTG	0.398										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(88-90)CCT>ACT		cadherin 10, type 2 preproprotein							108.0	101.0	104.0					5																	24593512		2203	4299	6502	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593512G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.88C>A	5.37:g.24593512G>T	ENSP00000264463:p.Pro30Thr	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.P30T	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	420	-			30					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.88C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	8.211	0.800408	0.16397	.	.	ENSG00000040731	ENST00000264463	T	0.53857	0.6	4.36	2.26	0.28386	.	1.736680	0.02661	N	0.107497	T	0.39655	0.1086	N	0.22421	0.69	0.30011	N	0.815138	B	0.02656	0.0	B	0.01281	0.0	T	0.27226	-1.0080	10	0.39692	T	0.17	.	4.7271	0.12946	0.3281:0.1665:0.5054:0.0	.	30	Q9Y6N8	CAD10_HUMAN	T	30	ENSP00000264463:P30T	ENSP00000264463:P30T	P	-	1	0	CDH10	24629269	1.000000	0.71417	0.962000	0.40283	0.434000	0.31775	1.552000	0.36244	0.259000	0.21709	0.579000	0.79373	CCT		PASS	0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		26	41	26	41	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915806	26915806	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:26915806A>C	ENST00000231021.4	-	3	627	c.455T>G	c.(454-456)aTc>aGc	p.I152S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	152	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I152S(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGTCATTGATATCATGTAT	0.378																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(454-456)ATC>AGC		cadherin 9, type 2 preproprotein							98.0	97.0	97.0					5																	26915806		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915806A>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.455T>G	5.37:g.26915806A>C	ENSP00000231021:p.Ile152Ser					CDH9_uc010iug.2_Missense_Mutation_p.I152S	p.I152S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	624	-			152			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.455T>G	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261440	0.80358	.	.	ENSG00000113100	ENST00000231021	T	0.61980	0.06	4.62	4.62	0.57501	Cadherin (3);Cadherin conserved site (1);Cadherin-like (2);	0.000000	0.85682	D	0.000000	D	0.83431	0.5253	H	0.94462	3.54	0.58432	D	0.999994	D	0.76494	0.999	D	0.74348	0.983	D	0.88014	0.2764	9	.	.	.	.	13.1548	0.59511	1.0:0.0:0.0:0.0	.	152	Q9ULB4	CADH9_HUMAN	S	152	ENSP00000231021:I152S	.	I	-	2	0	CDH9	26951563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.184000	0.94893	1.846000	0.53633	0.528000	0.53228	ATC		PASS	0.378	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		16	50	16	50	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36137453	36137453	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:36137453G>C	ENST00000296603.4	-	5	921	c.459C>G	c.(457-459)atC>atG	p.I153M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	153						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I153M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCATAGTAGATTGCATTCT	0.348																																						uc003jkb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)ATC>ATG		LMBR1 domain containing 2							86.0	87.0	86.0					5																	36137453		2203	4299	6502	SO:0001583	missense	92255					integral to membrane		g.chr5:36137453G>C		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.459C>G	5.37:g.36137453G>C	ENSP00000296603:p.Ile153Met						p.I153M	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	874	-	all_lung(31;0.000146)		153			Helical; (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.459C>G	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164917	0.57476	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.32023	1.47	5.73	2.92	0.33932	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.82323	2.585	0.53005	D	0.999966	D	0.64830	0.994	D	0.66497	0.944	T	0.46233	-0.9206	10	0.49607	T	0.09	-11.9119	5.3531	0.16045	0.2682:0.0:0.6001:0.1317	.	153	Q68DH5	LMBD2_HUMAN	M	153;47	ENSP00000296603:I153M	ENSP00000296603:I153M	I	-	3	3	LMBRD2	36173210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.002000	0.29796	0.745000	0.32763	0.655000	0.94253	ATC		PASS	0.348	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		3	29	3	29	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37120354	37120354	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:37120354A>C	ENST00000508244.1	-	48	9205	c.9112T>G	c.(9112-9114)Tct>Gct	p.S3038A	C5orf42_ENST00000274258.7_Missense_Mutation_p.S1936A|C5orf42_ENST00000425232.2_Missense_Mutation_p.S3038A|C5orf42_ENST00000512288.1_5'Flank			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3038						integral component of membrane (GO:0016021)		p.S3038A(1)|p.S1936A(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCCCAAAAGACTTCCTCTTA	0.368																																						uc011cpa.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(9112-9114)TCT>GCT		hypothetical protein LOC65250							124.0	121.0	122.0					5																	37120354		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37120354A>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9112T>G	5.37:g.37120354A>C	ENSP00000421690:p.Ser3038Ala					C5orf42_uc003jko.1_Missense_Mutation_p.S69A|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.S1556A|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S2131A	p.S3038A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		49	9343	-	all_lung(31;0.000616)		3038					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.9112T>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	12.10	1.837106	0.32513	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.13	0.116	0.14647	.	0.997964	0.08115	N	0.995559	T	0.21062	0.0507	N	0.22421	0.69	0.09310	N	1	B;B	0.27656	0.051;0.184	B;B	0.24541	0.017;0.054	T	0.20638	-1.0269	10	0.05620	T	0.96	.	4.0792	0.09919	0.3552:0.0:0.4925:0.1522	.	3038;1936	E9PH94;Q9H799	.;CE042_HUMAN	A	3038;3038;1936;2104	ENSP00000421690:S3038A;ENSP00000389014:S3038A;ENSP00000274258:S1936A;ENSP00000424223:S2104A	ENSP00000274258:S1936A	S	-	1	0	C5orf42	37156111	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.816000	0.04477	-0.314000	0.08716	-0.925000	0.02716	TCT		PASS	0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		10	46	10	46	---	---	---	---
C6	729	broad.mit.edu	37	5	41142975	41142975	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:41142975A>T	ENST00000263413.3	-	18	3021	c.2757T>A	c.(2755-2757)tgT>tgA	p.C919*	C6_ENST00000337836.5_Nonsense_Mutation_p.C919*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	919	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.C919*(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCTGTTTGCACATCTTATAG	0.433																																						uc003jmk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2755-2757)TGT>TGA		complement component 6 precursor							244.0	201.0	216.0					5																	41142975		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41142975A>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2757T>A	5.37:g.41142975A>T	ENSP00000263413:p.Cys919*					C6_uc003jml.1_Nonsense_Mutation_p.C919*	p.C919*	NM_000065	NP_000056	P13671	CO6_HUMAN			18	2967	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	919			Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.2757T>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	37	6.109684	0.97291	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.71	2.08	0.27032	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6493	8.4477	0.32852	0.6343:0.0:0.3656:0.0	.	.	.	.	X	919	.	ENSP00000263413:C919X	C	-	3	2	C6	41178732	1.000000	0.71417	0.985000	0.45067	0.146000	0.21551	1.598000	0.36740	0.441000	0.26529	-0.297000	0.09499	TGT		PASS	0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			20	116	20	116	---	---	---	---
CDC20B	166979	broad.mit.edu	37	5	54442562	54442562	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:54442562C>A	ENST00000381375.2	-	3	394	c.249G>T	c.(247-249)agG>agT	p.R83S	CDC20B_ENST00000296733.1_Missense_Mutation_p.R83S|CDC20B_ENST00000334206.5_Missense_Mutation_p.R83S|CDC20B_ENST00000322374.6_Missense_Mutation_p.R83S|CDC20B_ENST00000331730.3_Missense_Mutation_p.R62S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	83								p.R83S(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			AGGACAGAGCCCTAGTTTGAC	0.522											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jpo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)AGG>AGT		CDC20 cell division cycle 20 homolog B isoform							122.0	115.0	117.0					5																	54442562		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54442562C>A	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.249G>T	5.37:g.54442562C>A	ENSP00000370781:p.Arg83Ser		OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	CDC20B_uc003jpn.1_Missense_Mutation_p.R83S|CDC20B_uc010ivu.1_Missense_Mutation_p.R83S|CDC20B_uc010ivv.1_Missense_Mutation_p.R83S|CDC20B_uc003jpp.2_RNA	p.R83S	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		3	424	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	83					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.249G>T	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960168	0.34565	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.19394	3.23;3.23;3.23;3.23;2.15	4.79	1.94	0.25998	.	0.617889	0.15349	N	0.267049	T	0.14917	0.0360	L	0.60455	1.87	0.09310	N	1	B;B;B;P	0.36837	0.372;0.372;0.255;0.571	B;B;B;B	0.30855	0.114;0.083;0.057;0.121	T	0.14117	-1.0484	10	0.22706	T	0.39	-7.2114	4.3501	0.11151	0.0:0.6065:0.1899:0.2036	.	83;83;83;83	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	S	83;83;83;83;62	ENSP00000335664:R83S;ENSP00000296733:R83S;ENSP00000370781:R83S;ENSP00000315720:R83S;ENSP00000330566:R62S	ENSP00000296733:R83S	R	-	3	2	CDC20B	54478319	0.007000	0.16637	0.017000	0.16124	0.404000	0.30871	0.763000	0.26517	0.688000	0.31529	0.650000	0.86243	AGG		PASS	0.522	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		37	54	37	54	---	---	---	---
DEPDC1B	55789	broad.mit.edu	37	5	59982955	59982955	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:59982955C>A	ENST00000265036.5	-	2	215	c.148G>T	c.(148-150)Gtg>Ttg	p.V50L	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.V50L|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.V23L	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	50	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.V50L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AGCCAATCCACAGCTTCGGCC	0.498																																						uc003jsh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)GTG>TTG		DEP domain containing 1B isoform 1							91.0	84.0	86.0					5																	59982955		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59982955C>A	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.148G>T	5.37:g.59982955C>A	ENSP00000265036:p.Val50Leu					DEPDC1B_uc011cqm.1_Missense_Mutation_p.V50L|DEPDC1B_uc011cqn.1_Missense_Mutation_p.V23L	p.V50L	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN			2	221	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	50			DEP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.148G>T	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437769	0.62955	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.34275	1.37;1.37;1.37	5.74	5.74	0.90152	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.056855	0.64402	D	0.000001	T	0.46908	0.1417	M	0.69823	2.125	0.80722	D	1	B;B	0.22746	0.007;0.074	B;B	0.33750	0.072;0.169	T	0.32508	-0.9904	9	.	.	.	-15.7329	20.2825	0.98528	0.0:1.0:0.0:0.0	.	50;50	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	L	50;50;23	ENSP00000265036:V50L;ENSP00000389101:V50L;ENSP00000438320:V23L	.	V	-	1	0	DEPDC1B	60018712	1.000000	0.71417	0.996000	0.52242	0.122000	0.20287	7.669000	0.83911	2.873000	0.98535	0.561000	0.74099	GTG		PASS	0.498	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		18	17	18	17	---	---	---	---
KIF2A	3796	broad.mit.edu	37	5	61643888	61643888	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:61643888G>A	ENST00000401507.3	+	3	484	c.173G>A	c.(172-174)aGc>aAc	p.S58N	KIF2A_ENST00000407818.3_Missense_Mutation_p.S58N|KIF2A_ENST00000506857.1_Missense_Mutation_p.S31N|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000381103.2_Missense_Mutation_p.S38N	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	58	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S31N(1)|p.S58N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GACCTGGAGAGCATCTTTTCA	0.363																																						uc003jsy.3																			2	Substitution - Missense(2)		lung(2)		0						c.(172-174)AGC>AAC		kinesin heavy chain member 2 isoform 1							130.0	127.0	128.0					5																	61643888		2203	4300	6503	SO:0001583	missense	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61643888G>A	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.173G>A	5.37:g.61643888G>A	ENSP00000385622:p.Ser58Asn					KIF2A_uc003jsz.3_Missense_Mutation_p.S58N|KIF2A_uc010iwp.2_Missense_Mutation_p.S58N|KIF2A_uc003jsx.3_Missense_Mutation_p.S38N|KIF2A_uc010iwq.2_5'UTR	p.S58N	NM_004520	NP_004511	O00139	KIF2A_HUMAN		Lung(70;0.14)	3	484	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	58			Globular (Potential).		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	c.173G>A	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008606	0.75046	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000512541;ENST00000506857	T;T;T;T;T;T	0.74002	-0.64;-0.64;1.89;-0.8;0.85;-0.65	5.36	5.36	0.76844	.	0.037763	0.85682	D	0.000000	T	0.73783	0.3631	L	0.49350	1.555	0.58432	D	0.999993	B;B;B;B	0.34226	0.417;0.409;0.443;0.286	B;B;B;B	0.40534	0.142;0.274;0.332;0.142	T	0.68812	-0.5310	10	0.18276	T	0.48	.	19.0952	0.93248	0.0:0.0:1.0:0.0	.	58;58;58;38	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	N	58;38;58;58;31;31	ENSP00000385622:S58N;ENSP00000370493:S38N;ENSP00000423542:S58N;ENSP00000385000:S58N;ENSP00000425411:S31N;ENSP00000423772:S31N	ENSP00000370493:S38N	S	+	2	0	KIF2A	61679645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.318000	0.96334	2.522000	0.85027	0.460000	0.39030	AGC		PASS	0.363	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		45	82	45	82	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70798568	70798568	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:70798568A>G	ENST00000358731.4	+	15	2454	c.2191A>G	c.(2191-2193)Att>Gtt	p.I731V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	731					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I731V(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAGGAAGAAATTGGGGCCAA	0.418																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2191-2193)ATT>GTT		transcription factor-like nuclear regulator							93.0	87.0	89.0					5																	70798568		1874	4101	5975	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70798568A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2191A>G	5.37:g.70798568A>G	ENSP00000351575:p.Ile731Val					BDP1_uc003kbn.1_Missense_Mutation_p.I731V|BDP1_uc003kbo.2_Missense_Mutation_p.I731V	p.I731V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	15	2454	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	731					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.2191A>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309078	0.23821	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.12255	2.7	4.7	-2.54	0.06307	.	1.688150	0.02975	N	0.144891	T	0.06781	0.0173	N	0.17674	0.51	0.09310	N	0.999998	B;P;B	0.37370	0.009;0.592;0.242	B;B;B	0.31812	0.008;0.136;0.052	T	0.14699	-1.0463	10	0.30078	T	0.28	.	0.9607	0.01395	0.3591:0.311:0.1794:0.1505	.	731;731;731	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	731;731;311;731	ENSP00000351575:I731V	ENSP00000351575:I731V	I	+	1	0	BDP1	70834324	0.000000	0.05858	0.000000	0.03702	0.346000	0.29079	-0.888000	0.04148	-0.492000	0.06687	0.402000	0.26972	ATT		PASS	0.418	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		19	31	19	31	---	---	---	---
AGGF1	55109	broad.mit.edu	37	5	76331382	76331382	+	Silent	SNP	G	G	T	rs146897885		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:76331382G>T	ENST00000312916.7	+	3	712	c.330G>T	c.(328-330)acG>acT	p.T110T	AGGF1_ENST00000506806.1_Silent_p.T110T|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	110					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)	p.T110T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TTTATCAGACGTACTACAATG	0.294																																						uc003ket.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(328-330)ACG>ACT		angiogenic factor VG5Q							52.0	52.0	52.0					5																	76331382		2203	4298	6501	SO:0001819	synonymous_variant	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76331382G>T	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.330G>T	5.37:g.76331382G>T						AGGF1_uc003kes.2_Silent_p.T110T|AGGF1_uc003keu.1_RNA	p.T110T	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	3	690	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	110					O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	c.330G>T	CCDS4035.1																																																																																				PASS	0.294	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		3	15	3	15	---	---	---	---
ARSB	411	broad.mit.edu	37	5	78181566	78181566	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:78181566C>A	ENST00000264914.4	-	5	1519	c.983G>T	c.(982-984)gGg>gTg	p.G328V	ARSB_ENST00000565165.1_Missense_Mutation_p.G328V|ARSB_ENST00000396151.3_Missense_Mutation_p.G328V|ARSB_ENST00000521800.1_5'UTR	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	328					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)	p.G328V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AAAGCCCACCCCTCGGACGCC	0.577																																					Melanoma(169;563 1968 25780 26156 52266)	uc003kfq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(982-984)GGG>GTG		arylsulfatase B isoform 1 precursor							95.0	96.0	96.0					5																	78181566		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78181566C>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.983G>T	5.37:g.78181566C>A	ENSP00000264914:p.Gly328Val					ARSB_uc003kfr.3_Missense_Mutation_p.G328V	p.G328V	NM_000046	NP_000037	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	5	2269	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	328					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.983G>T	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933225	0.73442	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.94138	-3.36;-3.36	5.46	5.46	0.80206	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	N	0.04297	-0.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.991	D	0.91778	0.5433	10	0.26408	T	0.33	.	18.2841	0.90108	0.0:1.0:0.0:0.0	.	328;328	Q8N322;P15848	.;ARSB_HUMAN	V	328	ENSP00000264914:G328V;ENSP00000379455:G328V	ENSP00000264914:G328V	G	-	2	0	ARSB	78217322	1.000000	0.71417	0.948000	0.38648	0.989000	0.77384	4.809000	0.62591	2.555000	0.86185	0.561000	0.74099	GGG		PASS	0.577	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		35	63	35	63	---	---	---	---
STARD4	134429	broad.mit.edu	37	5	110843086	110843086	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:110843086T>C	ENST00000296632.3	-	2	180	c.46A>G	c.(46-48)Aac>Gac	p.N16D	STARD4_ENST00000502322.1_Missense_Mutation_p.N16D|STARD4_ENST00000509887.1_Missense_Mutation_p.N16D|STARD4_ENST00000512160.1_Missense_Mutation_p.N16D|STARD4_ENST00000511569.1_Intron	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	16	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.N16D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ATGAGAGTGTTTTTAAGTTTA	0.368																																						uc003kph.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)AAC>GAC		StAR-related lipid transfer (START) domain							187.0	175.0	179.0					5																	110843086		2202	4300	6502	SO:0001583	missense	134429				lipid transport		lipid binding	g.chr5:110843086T>C	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.46A>G	5.37:g.110843086T>C	ENSP00000296632:p.Asn16Asp					STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_Intron|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Missense_Mutation_p.N16D	p.N16D	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	2	130	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	16			START.		Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	c.46A>G	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.836403	0.32421	.	.	ENSG00000164211	ENST00000296632;ENST00000512160;ENST00000505803;ENST00000502322;ENST00000509887	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.48	5.48	0.80851	Lipid-binding START (2);START-like domain (1);	0.064952	0.64402	D	0.000008	T	0.32823	0.0842	L	0.37630	1.12	0.44711	D	0.997709	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.007	T	0.13575	-1.0504	10	0.10111	T	0.7	-0.0084	15.5625	0.76258	0.0:0.0:0.0:1.0	.	16;16	Q86TN9;Q96DR4	.;STAR4_HUMAN	D	16	ENSP00000296632:N16D;ENSP00000426148:N16D;ENSP00000427478:N16D;ENSP00000427639:N16D;ENSP00000425308:N16D	ENSP00000296632:N16D	N	-	1	0	STARD4	110870985	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.705000	0.68355	2.086000	0.62901	0.533000	0.62120	AAC		PASS	0.368	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		15	22	15	22	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140802848	140802848	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:140802848C>G	ENST00000398587.2	+	1	2087	c.2054C>G	c.(2053-2055)tCt>tGt	p.S685C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S685C(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTAACTCTGAAACCTCA	0.637																																						uc003lkq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2053-2055)TCT>TGT		protocadherin gamma subfamily A, 11 isoform 1							57.0	64.0	62.0					5																	140802848		2203	4300	6503	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802848C>G	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2054C>G	5.37:g.140802848C>G	ENSP00000381589:p.Ser685Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.S685C|PCDHGA11_uc003lkp.1_Intron	p.S685C	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2312	+			685			Extracellular (Potential).		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.2054C>G	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.855505	0.51376	.	.	ENSG00000253873	ENST00000398587	T	0.49720	0.77	5.03	0.559	0.17272	.	1.033030	0.07873	U	0.968164	T	0.65123	0.2661	M	0.80183	2.485	0.09310	N	0.999998	P;P	0.52061	0.95;0.893	P;P	0.58013	0.571;0.831	T	0.55535	-0.8126	10	0.87932	D	0	.	10.666	0.45731	0.3668:0.5144:0.1188:0.0	.	685;685	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	C	685	ENSP00000381589:S685C	ENSP00000381589:S685C	S	+	2	0	PCDHGA11	140783032	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.078000	0.11375	0.171000	0.19730	0.556000	0.70494	TCT		PASS	0.637	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		19	39	19	39	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140802857	140802857	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:140802857C>G	ENST00000398587.2	+	1	2096	c.2063C>G	c.(2062-2064)tCa>tGa	p.S688*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	688					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S688*(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAACCTCAGACCTCTCG	0.632																																						uc003lkq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2062-2064)TCA>TGA		protocadherin gamma subfamily A, 11 isoform 1							60.0	67.0	65.0					5																	140802857		2203	4300	6503	SO:0001587	stop_gained	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802857C>G	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2063C>G	5.37:g.140802857C>G	ENSP00000381589:p.Ser688*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.S688*|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	p.S688*	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2321	+			688			Extracellular (Potential).		B7ZVY8|Q9Y5D8|Q9Y5D9	Nonsense_Mutation	SNP	ENST00000398587.2	37	c.2063C>G	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	31	5.088591	0.94100	.	.	ENSG00000253873	ENST00000398587	.	.	.	4.64	4.64	0.57946	.	0.000000	0.28527	U	0.015025	.	.	.	.	.	.	0.20489	N	0.999892	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.0011	0.64433	0.213:0.787:0.0:0.0	.	.	.	.	X	688	.	ENSP00000381589:S688X	S	+	2	0	PCDHGA11	140783041	0.000000	0.05858	0.062000	0.19696	0.035000	0.12851	-0.034000	0.12225	2.589000	0.87451	0.650000	0.86243	TCA		PASS	0.632	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		19	43	19	43	---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161580278	161580278	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:161580278C>G	ENST00000361925.4	+	9	1528	c.1308C>G	c.(1306-1308)atC>atG	p.I436M	GABRG2_ENST00000356592.3_Missense_Mutation_p.I444M|GABRG2_ENST00000414552.2_Missense_Mutation_p.I484M|GABRG2_ENST00000393933.4_Missense_Mutation_p.I341M			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	436	Interaction with GABARAP. {ECO:0000255}.				adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.I444M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|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)	GGATACATATCCGCATTGCCA	0.493																																						uc003lyz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1306-1308)ATC>ATG		gamma-aminobutyric acid A receptor, gamma 2							264.0	258.0	260.0					5																	161580278		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580278C>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1308C>G	5.37:g.161580278C>G	ENSP00000354651:p.Ile436Met					GABRG2_uc010jjc.2_Missense_Mutation_p.I484M|GABRG2_uc003lyy.3_Missense_Mutation_p.I444M|GABRG2_uc011dej.1_Missense_Mutation_p.I341M	p.I436M	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1666	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	436			Cytoplasmic (Probable).|Interaction with GABARAP (Potential).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1308C>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583078	0.46006	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.95	2.24	0.28232	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.094116	0.64402	N	0.000001	D	0.88051	0.6333	L	0.58101	1.795	0.58432	D	0.999995	D;D;D	0.69078	0.989;0.995;0.997	D;P;D	0.71656	0.974;0.872;0.972	D	0.83406	0.0025	10	0.29301	T	0.29	.	9.1829	0.37152	0.0:0.5874:0.0:0.4126	.	484;436;444	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	M	444;484;436;341	ENSP00000349000:I444M;ENSP00000410732:I484M;ENSP00000354651:I436M;ENSP00000377510:I341M	ENSP00000349000:I444M	I	+	3	3	GABRG2	161512856	0.832000	0.29368	0.997000	0.53966	0.986000	0.74619	0.011000	0.13264	0.130000	0.18549	-0.137000	0.14449	ATC		PASS	0.493	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			36	48	36	48	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170380642	170380643	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:170380642_170380643GG>TT	ENST00000523189.1	+	13	1674_1675	c.1510_1511GG>TT	c.(1510-1512)GGa>TTa	p.G504L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	504					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.G504L(1)|p.G504V(1)|p.G504*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAGTTGTAGGAGGAAGATTA	0.351			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(1510-1512)GGA>TGA|c.(1510-1512)GGA>GTA		RAN binding protein 17																																				SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170380642G>T|g.chr5:170380643G>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	Exception_encountered	5.37:g.170380642_170380643delinsTT	ENSP00000427975:p.Gly504Leu					RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	p.G504*|p.G504V	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	1526|1527	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	504					Q8IU74	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000523189.1	37	c.1510G>T|c.1511G>T	CCDS34287.1																																																																																				PASS	0.351	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		11	20	11	20	---	---	---	---
F12	2161	broad.mit.edu	37	5	176833016	176833016	+	Silent	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:176833016G>A	ENST00000253496.3	-	3	210	c.162C>T	c.(160-162)caC>caT	p.H54H	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	54	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.H54H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	ACAGCTGCCGGTGGTACTGGA	0.602									Hereditary Angioedema																													uc003mgo.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(160-162)CAC>CAT		coagulation factor XII precursor							93.0	96.0	95.0					5																	176833016		2203	4300	6503	SO:0001819	synonymous_variant	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176833016G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.162C>T	5.37:g.176833016G>A						F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	p.H54H	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	211	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	54			Fibronectin type-II.		P78339	Silent	SNP	ENST00000253496.3	37	c.162C>T	CCDS34302.1																																																																																				PASS	0.602	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			17	42	17	42	---	---	---	---
TMEM170B	100113407	broad.mit.edu	37	6	11566033	11566033	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:11566033G>C	ENST00000379426.1	+	2	232	c.232G>C	c.(232-234)Gga>Cga	p.G78R	TMEM170B_ENST00000543875.1_Missense_Mutation_p.G78R	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	78						integral component of membrane (GO:0016021)		p.G78R(1)		large_intestine(3)|lung(5)	8						AGTCAGCATTGGATTTCTGGC	0.438																																						uc010jpa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)GGA>CGA		transmembrane protein 170B							226.0	217.0	220.0					6																	11566033		2018	4198	6216	SO:0001583	missense	100113407					integral to membrane		g.chr6:11566033G>C		CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.232G>C	6.37:g.11566033G>C	ENSP00000368737:p.Gly78Arg						p.G78R	NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN			2	232	+			78			Helical; (Potential).			Missense_Mutation	SNP	ENST00000379426.1	37	c.232G>C	CCDS43425.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888332	0.91814	.	.	ENSG00000205269	ENST00000543875;ENST00000379426	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76898	-0.2789	9	0.87932	D	0	-4.4327	19.0247	0.92927	0.0:0.0:1.0:0.0	.	78	Q5T4T1	T170B_HUMAN	R	78	.	ENSP00000368737:G78R	G	+	1	0	TMEM170B	11674019	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	9.864000	0.99589	2.491000	0.84063	0.563000	0.77884	GGA		PASS	0.438	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829		19	87	19	87	---	---	---	---
HIST1H2AA	221613	broad.mit.edu	37	6	25726578	25726578	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:25726578T>C	ENST00000297012.3	-	1	212	c.178A>G	c.(178-180)Aca>Gca	p.T60A	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	60						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T60A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATTTCTGCTGTGAGATACTCT	0.537																																						uc003nfc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)ACA>GCA		histone cluster 1, H2aa							308.0	238.0	262.0					6																	25726578		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726578T>C	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.178A>G	6.37:g.25726578T>C	ENSP00000297012:p.Thr60Ala					HIST1H2BA_uc003nfd.2_5'Flank	p.T60A	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	213	-			60						Missense_Mutation	SNP	ENST00000297012.3	37	c.178A>G	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	T	9.358	1.067235	0.20067	.	.	ENSG00000164508	ENST00000297012	T	0.69561	-0.41	3.7	2.53	0.30540	Histone-fold (2);Histone core (1);Histone H2A (2);	0.129043	0.32785	N	0.005645	T	0.17238	0.0414	N	0.05280	-0.08	0.39342	D	0.965597	B	0.06786	0.001	B	0.06405	0.002	T	0.16217	-1.0410	10	0.07482	T	0.82	.	7.4172	0.27050	0.0:0.1088:0.0:0.8912	.	60	Q96QV6	H2A1A_HUMAN	A	60	ENSP00000297012:T60A	ENSP00000297012:T60A	T	-	1	0	HIST1H2AA	25834557	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	4.777000	0.62361	0.779000	0.33543	0.529000	0.55759	ACA		PASS	0.537	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		28	24	28	24	---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29080440	29080440	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:29080440C>A	ENST00000377169.1	+	1	773	c.773C>A	c.(772-774)gCc>gAc	p.A258D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A258D(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTCATTCCGGCCATGTGCATG	0.453																																						uc011dll.1																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)GCC>GAC		olfactory receptor, family 2, subfamily J,							112.0	112.0	112.0					6																	29080440		1249	2563	3812	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080440C>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.773C>A	6.37:g.29080440C>A	ENSP00000366374:p.Ala258Asp						p.A258D	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	773	+			258			Helical; Name=6; (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.773C>A	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.289565	0.23478	.	.	ENSG00000204701	ENST00000377169	T	0.00193	8.58	2.78	-0.379	0.12493	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	M	0.93241	3.395	0.09310	N	1	P	0.49253	0.921	P	0.55667	0.781	T	0.18935	-1.0321	9	0.72032	D	0.01	.	7.9979	0.30280	0.0:0.7024:0.0:0.2976	.	258	O76001	OR2J3_HUMAN	D	258	ENSP00000366374:A258D	ENSP00000366374:A258D	A	+	2	0	OR2J3	29188419	0.000000	0.05858	0.889000	0.34880	0.134000	0.20937	-2.776000	0.00776	-0.258000	0.09446	0.436000	0.28706	GCC		PASS	0.453	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			26	42	26	42	---	---	---	---
TRIM39	56658	broad.mit.edu	37	6	30310025	30310025	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:30310025G>C	ENST00000396547.1	+	8	1706	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H	RPP21_ENST00000442966.2_5'Flank|TRIM39_ENST00000396551.3_Missense_Mutation_p.D486H|RPP21_ENST00000433076.2_5'Flank|TRIM39_ENST00000376656.4_Missense_Mutation_p.D516H|TRIM39_ENST00000396548.1_Missense_Mutation_p.D486H|TRIM39_ENST00000376659.5_Missense_Mutation_p.D486H|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Missense_Mutation_p.D486H|RPP21_ENST00000428040.2_5'Flank|RPP21_ENST00000436442.2_5'Flank			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	516					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D516H(1)		ovary(3)	3						GCCCCCAACAGATTGGGAGTG	0.562																																						uc010jrz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1546-1548)GAT>CAT		tripartite motif-containing 39 isoform 1							62.0	63.0	62.0					6																	30310025		1508	2709	4217	SO:0001583	missense	56658				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding	g.chr6:30310025G>C	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1546G>C	6.37:g.30310025G>C	ENSP00000379796:p.Asp516His					TRIM39_uc003npz.2_Missense_Mutation_p.D486H|TRIM39_uc003nqb.2_Missense_Mutation_p.D486H|TRIM39_uc003nqc.2_Missense_Mutation_p.D486H|TRIM39_uc010jsa.1_Intron|RPP21_uc003nqd.1_5'Flank|RPP21_uc003nqe.1_5'Flank|RPP21_uc003nqf.1_5'Flank	p.D516H	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN			9	1858	+			516					Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.1546G>C	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740752	0.69304	.	.	ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000396548;ENST00000376659;ENST00000396547	T;T;T;T;T;T	0.62105	0.09;0.05;0.12;0.09;0.09;0.05	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);	0.423027	0.22824	N	0.055186	T	0.65719	0.2718	L	0.42245	1.32	0.43512	D	0.995779	D;D	0.89917	1.0;1.0	D;D	0.76575	0.956;0.988	T	0.62282	-0.6887	10	0.38643	T	0.18	.	14.7802	0.69760	0.0:0.0:1.0:0.0	.	516;486	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	H	486;516;516;486;486;486;516	ENSP00000379800:D486H;ENSP00000365844:D516H;ENSP00000439400:D486H;ENSP00000379797:D486H;ENSP00000365847:D486H;ENSP00000379796:D516H	ENSP00000365844:D516H	D	+	1	0	TRIM39	30418004	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.517000	0.53443	2.854000	0.98071	0.655000	0.94253	GAT		PASS	0.562	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		15	23	15	23	---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33634988	33634988	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:33634988A>G	ENST00000374316.5	+	16	2694	c.1634A>G	c.(1633-1635)aAg>aGg	p.K545R	ITPR3_ENST00000605930.1_Missense_Mutation_p.K545R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	545					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.K545R(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCAGACCAGAAGAACGCCCCC	0.637																																						uc011drk.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(1633-1635)AAG>AGG		inositol 1,4,5-triphosphate receptor, type 3							81.0	71.0	75.0					6																	33634988		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33634988A>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1634A>G	6.37:g.33634988A>G	ENSP00000363435:p.Lys545Arg						p.K545R	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			15	1853	+			545			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1634A>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	2.154	-0.393688	0.04899	.	.	ENSG00000096433	ENST00000374316	D	0.88975	-2.45	4.51	4.51	0.55191	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	N	0.02708	-0.52	0.42369	D	0.992448	B	0.09022	0.002	B	0.12156	0.007	T	0.55630	-0.8111	10	0.02654	T	1	-39.9586	8.8266	0.35059	0.9146:0.0:0.0854:0.0	.	545	Q14573	ITPR3_HUMAN	R	545	ENSP00000363435:K545R	ENSP00000363435:K545R	K	+	2	0	ITPR3	33742966	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	5.474000	0.66781	1.804000	0.52760	0.379000	0.24179	AAG		PASS	0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		9	22	9	22	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38851775	38851776	+	Splice_Site	DNP	GT	GT	TA			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:38851775_38851776GT>TA	ENST00000359357.3	+	54	7862		c.e54+1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(6)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAGATCAGGTATGGCTGAAA	0.297																																						uc003ooe.1																			6	Unknown(6)		lung(6)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.e54+1|c.e54+2		dynein, axonemal, heavy polypeptide 8																																				SO:0001630	splice_region_variant	1769							g.chr6:38851775G>T|g.chr6:38851776T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	Exception_encountered	6.37:g.38851775_38851776delinsTA							p.Q2536_splice	NM_001371	NP_001362					54	8208	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37	c.7608_splice																																																																																					PASS	0.297	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	9	28|27	9	27	---	---	---	---
SRF	6722	broad.mit.edu	37	6	43146615	43146615	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:43146615C>A	ENST00000265354.4	+	6	1784	c.1426C>A	c.(1426-1428)Cac>Aac	p.H476N	SRF_ENST00000457278.2_Missense_Mutation_p.H272N	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	476					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)	p.H476N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGTTCAGCTCCACCAGGTAGG	0.502																																						uc003oui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1426-1428)CAC>AAC		serum response factor (c-fos serum response							187.0	158.0	168.0					6																	43146615		2203	4300	6503	SO:0001583	missense	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43146615C>A	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1426C>A	6.37:g.43146615C>A	ENSP00000265354:p.His476Asn					SRF_uc011dvf.1_Missense_Mutation_p.H272N	p.H476N	NM_003131	NP_003122	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		6	1901	+			476					Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	c.1426C>A	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781918	0.70222	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.85702	-2.02	5.62	5.62	0.85841	.	0.102892	0.64402	D	0.000003	D	0.86037	0.5837	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.86736	0.1951	10	0.51188	T	0.08	-7.5963	19.6512	0.95812	0.0:1.0:0.0:0.0	.	476	P11831	SRF_HUMAN	N	476;272	ENSP00000265354:H476N	ENSP00000265354:H476N	H	+	1	0	SRF	43254593	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.171000	0.77595	2.648000	0.89879	0.555000	0.69702	CAC		PASS	0.502	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		6	191	6	191	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54805755	54805755	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:54805755G>T	ENST00000306858.7	+	5	2102	c.1986G>T	c.(1984-1986)agG>agT	p.R662S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	662								p.R662S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACTTAAAAGGCGAAGTTTCC	0.338																																						uc003pck.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1984-1986)AGG>AGT		hypothetical protein LOC222584							59.0	63.0	61.0					6																	54805755		2202	4298	6500	SO:0001583	missense	222584							g.chr6:54805755G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1986G>T	6.37:g.54805755G>T	ENSP00000304078:p.Arg662Ser						p.R662S	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2102	+	Lung NSC(77;0.0178)|Renal(3;0.122)		662					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1986G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867409	0.51588	.	.	ENSG00000168143	ENST00000306858	T	0.35605	1.3	5.55	0.688	0.18027	.	0.249332	0.39985	N	0.001217	T	0.42787	0.1218	M	0.71581	2.175	0.48395	D	0.999649	D	0.89917	1.0	D	0.85130	0.997	T	0.38779	-0.9645	10	0.38643	T	0.18	-23.2524	11.9155	0.52763	0.4187:0.0:0.5813:0.0	.	662	Q5T0W9	FA83B_HUMAN	S	662	ENSP00000304078:R662S	ENSP00000304078:R662S	R	+	3	2	FAM83B	54913714	0.996000	0.38824	0.998000	0.56505	0.990000	0.78478	0.484000	0.22308	0.118000	0.18165	0.655000	0.94253	AGG		PASS	0.338	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		8	62	8	62	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64389923	64389923	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:64389923G>T	ENST00000262043.3	+	3	607	c.267G>T	c.(265-267)atG>atT	p.M89I	PHF3_ENST00000393387.1_Missense_Mutation_p.M89I|PHF3_ENST00000509330.1_Missense_Mutation_p.M89I			Q92576	PHF3_HUMAN	PHD finger protein 3	89					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.M89I(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ACGATATTATGGATGAAGGAG	0.318																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(265-267)ATG>ATT		PHD finger protein 3							118.0	116.0	117.0					6																	64389923		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389923G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.267G>T	6.37:g.64389923G>T	ENSP00000262043:p.Met89Ile					PHF3_uc010kaf.1_Missense_Mutation_p.M89I|PHF3_uc003pem.2_Missense_Mutation_p.M42I|PHF3_uc010kag.1_Missense_Mutation_p.M1I|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.M1I|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.M89I	p.M89I	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		2	293	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		89					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.267G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869256	0.91587	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.55588	0.92;1.86;1.51;0.51;1.86	5.87	5.87	0.94306	.	0.000000	0.48286	D	0.000195	T	0.67674	0.2918	M	0.64997	1.995	0.51482	D	0.99992	P;D	0.71674	0.936;0.998	P;D	0.80764	0.834;0.994	T	0.68618	-0.5361	10	0.87932	D	0	-15.9039	20.1935	0.98237	0.0:0.0:1.0:0.0	.	89;89	Q92576;D6R9X2	PHF3_HUMAN;.	I	1;89;42;89;89;19	ENSP00000425227:M1I;ENSP00000262043:M89I;ENSP00000424078:M42I;ENSP00000422841:M89I;ENSP00000377048:M89I	ENSP00000262043:M89I	M	+	3	0	PHF3	64447882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.096000	0.76960	2.779000	0.95612	0.591000	0.81541	ATG		PASS	0.318	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			5	61	5	61	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69945025	69945025	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:69945025G>C	ENST00000370598.1	+	19	3530	c.2709G>C	c.(2707-2709)tgG>tgC	p.W903C	BAI3_ENST00000238918.8_Missense_Mutation_p.W109C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	903					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W903C(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGCATTATGGAGGTAAGTAA	0.378																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2707-2709)TGG>TGC		brain-specific angiogenesis inhibitor 3							210.0	196.0	200.0					6																	69945025		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69945025G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2709G>C	6.37:g.69945025G>C	ENSP00000359630:p.Trp903Cys					BAI3_uc010kak.2_Missense_Mutation_p.W903C|BAI3_uc011dxx.1_Missense_Mutation_p.W109C|BAI3_uc003pex.1_Missense_Mutation_p.W33C	p.W903C	NM_001704	NP_001695	O60242	BAI3_HUMAN			19	3157	+		all_lung(197;0.212)	903			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2709G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052106	0.75960	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.38401	1.14;1.14	5.81	5.81	0.92471	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.41632	1.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.41215	-0.9521	10	0.59425	D	0.04	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	109;903;903	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	C	903;109	ENSP00000359630:W903C;ENSP00000238918:W109C	ENSP00000238918:W109C	W	+	3	0	BAI3	70001746	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.869000	0.99810	2.755000	0.94549	0.650000	0.86243	TGG		PASS	0.378	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	20	5	20	---	---	---	---
SENP6	26054	broad.mit.edu	37	6	76333641	76333641	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:76333641G>A	ENST00000447266.2	+	3	650	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SENP6_ENST00000370010.2_Missense_Mutation_p.E58K|SENP6_ENST00000327284.8_Missense_Mutation_p.E58K|SENP6_ENST00000370014.3_Missense_Mutation_p.E58K	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	58					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.E58K(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CAGTGTGGATGAAGATGAGGA	0.313																																						uc003pid.3																			2	Substitution - Missense(2)		lung(2)	breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(172-174)GAA>AAA		SUMO1/sentrin specific peptidase 6 isoform 1							197.0	186.0	189.0					6																	76333641		1821	4080	5901	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76333641G>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.172G>A	6.37:g.76333641G>A	ENSP00000402527:p.Glu58Lys					SENP6_uc003pie.3_Missense_Mutation_p.E58K|SENP6_uc003pic.2_Missense_Mutation_p.E58K	p.E58K	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			3	791	+		all_hematologic(105;0.189)	58					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.172G>A	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942739	0.73672	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266	T;T;T;T	0.35973	2.45;2.45;1.28;2.47	4.94	4.94	0.65067	.	0.073337	0.56097	D	0.000034	T	0.30510	0.0767	L	0.59436	1.845	0.80722	D	1	P;B;P	0.35575	0.51;0.376;0.51	B;B;B	0.38428	0.273;0.141;0.273	T	0.25984	-1.0116	10	0.72032	D	0.01	-22.1303	18.027	0.89272	0.0:0.0:1.0:0.0	.	58;58;58	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	K	58	ENSP00000359027:E58K;ENSP00000359031:E58K;ENSP00000321820:E58K;ENSP00000402527:E58K	ENSP00000321820:E58K	E	+	1	0	SENP6	76390361	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.884000	0.69729	2.667000	0.90743	0.491000	0.48974	GAA		PASS	0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		4	29	4	29	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79688325	79688325	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:79688325G>T	ENST00000275034.4	-	24	3040	c.2873C>A	c.(2872-2874)cCa>cAa	p.P958Q	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	958	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.P958Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACCCATCTGTGGCACAAATGG	0.358																																						uc003pir.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(2872-2874)CCA>CAA		pleckstrin homology domain interacting protein							99.0	94.0	96.0					6																	79688325		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79688325G>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2873C>A	6.37:g.79688325G>T	ENSP00000275034:p.Pro958Gln					PHIP_uc003piq.2_5'UTR|PHIP_uc011dyp.1_Missense_Mutation_p.P957Q	p.P958Q	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	24	3099	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	958			Mediates interaction with IRS1 (By similarity).		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2873C>A	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312834	0.81358	.	.	ENSG00000146247	ENST00000275034	T	0.73152	-0.72	5.16	5.16	0.70880	.	0.157646	0.44483	D	0.000448	D	0.82884	0.5134	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.84239	0.0471	9	.	.	.	-5.4575	17.612	0.88056	0.0:0.0:1.0:0.0	.	958;958	A7J992;Q8WWQ0	.;PHIP_HUMAN	Q	958	ENSP00000275034:P958Q	.	P	-	2	0	PHIP	79745044	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.356000	0.97091	2.384000	0.81235	0.655000	0.94253	CCA		PASS	0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			4	28	4	28	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90442427	90442427	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:90442427C>G	ENST00000369393.3	-	34	4906	c.4791G>C	c.(4789-4791)aaG>aaC	p.K1597N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1597N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1597					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.K1597N(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGACCACACACTTTCTGCCAA	0.443																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(4789-4791)AAG>AAC		MDN1, midasin homolog							163.0	142.0	149.0					6																	90442427		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90442427C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4791G>C	6.37:g.90442427C>G	ENSP00000358400:p.Lys1597Asn						p.K1597N	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	34	4907	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1597					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4791G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403192	0.11754	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39592	1.07;1.07	5.31	-0.898	0.10550	.	0.222690	0.44285	D	0.000463	T	0.07638	0.0192	N	0.20986	0.625	0.27843	N	0.941036	B	0.15141	0.012	B	0.14578	0.011	T	0.22103	-1.0226	10	0.35671	T	0.21	.	1.4654	0.02405	0.1997:0.3866:0.1006:0.3131	.	1597	Q9NU22	MDN1_HUMAN	N	1597	ENSP00000358400:K1597N;ENSP00000413970:K1597N	ENSP00000358400:K1597N	K	-	3	2	MDN1	90499148	0.711000	0.27906	0.625000	0.29200	0.497000	0.33675	-0.178000	0.09782	-0.153000	0.11137	0.563000	0.77884	AAG		PASS	0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			15	56	15	56	---	---	---	---
TRAF3IP2	10758	broad.mit.edu	37	6	111887689	111887689	+	Silent	SNP	G	G	A	rs144166946		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:111887689G>A	ENST00000340026.6	-	8	2055	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	TRAF3IP2_ENST00000359831.4_Silent_p.D477D|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000368735.1_Silent_p.D22D|TRAF3IP2_ENST00000368761.5_Silent_p.D478D|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000392556.4_Silent_p.D66D			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	487	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.D487D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GCTCATCCTCGTCCAGCTGCG	0.507																																						uc011ebc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1432-1434)GAC>GAT		TRAF3 interacting protein 2 isoform 2							306.0	197.0	234.0					6																	111887689		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111887689G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1461C>T	6.37:g.111887689G>A						TRAF3IP2_uc011ebb.1_Silent_p.D22D|TRAF3IP2_uc003pvd.2_Silent_p.D70D|TRAF3IP2_uc003pvg.2_Silent_p.D477D|TRAF3IP2_uc003pvf.2_Silent_p.D478D	p.D478D	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	8	2049	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	487			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.1434C>T																																																																																					PASS	0.507	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			19	62	19	62	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123698878	123698878	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:123698878G>C	ENST00000398178.3	-	18	1250	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	TRDN_ENST00000334268.4_Missense_Mutation_p.P410R	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	410					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.P410R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCTTTCTTTGGTGACTTTGC	0.343																																						uc003pzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1228-1230)CCA>CGA		triadin							145.0	141.0	142.0					6																	123698878		1859	4101	5960	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123698878G>C	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1229C>G	6.37:g.123698878G>C	ENSP00000381240:p.Pro410Arg					TRDN_uc003pzk.1_Missense_Mutation_p.P411R|TRDN_uc003pzl.1_Missense_Mutation_p.P411R|TRDN_uc010kem.1_5'UTR	p.P410R	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	18	1251	-			410			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1229C>G	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217955	0.39201	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.37235	1.21;1.23	5.05	5.05	0.67936	.	0.387346	0.21640	N	0.071355	T	0.17959	0.0431	N	0.19112	0.55	0.80722	D	1	P;P;P	0.41313	0.745;0.745;0.745	P;P;P	0.44394	0.448;0.448;0.448	T	0.01993	-1.1233	10	0.27785	T	0.31	-2.7909	14.0977	0.65034	0.0:0.0:1.0:0.0	.	410;411;410	Q5SWK9;Q8IVK2;Q13061	.;.;TRDN_HUMAN	R	410;412;410	ENSP00000381240:P410R;ENSP00000333984:P410R	ENSP00000333984:P410R	P	-	2	0	TRDN	123740577	1.000000	0.71417	0.931000	0.37212	0.750000	0.42670	3.890000	0.56220	2.782000	0.95742	0.514000	0.50259	CCA		PASS	0.343	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	46	10	46	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132014720	132014720	+	Silent	SNP	C	C	A	rs186734779	byFrequency	TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:132014720C>A	ENST00000414305.1	+	16	1696	c.1368C>A	c.(1366-1368)atC>atA	p.I456I	ENPP3_ENST00000357639.3_Silent_p.I456I|ENPP3_ENST00000358229.5_Silent_p.I456I			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	456	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.I456I(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACGTCAGAATCGACAAAGTTC	0.398																																						uc003qcu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1366-1368)ATC>ATA		ectonucleotide pyrophosphatase/phosphodiesterase							217.0	189.0	199.0					6																	132014720		2203	4300	6503	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132014720C>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1368C>A	6.37:g.132014720C>A						ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.I456I	p.I456I	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	16	1715	+	Breast(56;0.0753)		456			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.1368C>A	CCDS5148.1																																																																																				PASS	0.398	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			4	49	4	49	---	---	---	---
TAAR2	9287	broad.mit.edu	37	6	132939037	132939037	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:132939037C>G	ENST00000367931.1	-	2	307	c.308G>C	c.(307-309)aGa>aCa	p.R103T	TAAR2_ENST00000537809.1_Missense_Mutation_p.R58T|TAAR2_ENST00000275191.2_Missense_Mutation_p.R58T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	103					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.R103T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CTCCACCGATCTGATCATACT	0.413																																						uc003qdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(307-309)AGA>ACA		trace amine associated receptor 2 isoform 1							107.0	100.0	102.0					6																	132939037		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939037C>G	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.308G>C	6.37:g.132939037C>G	ENSP00000356908:p.Arg103Thr					TAAR2_uc010kfr.1_Missense_Mutation_p.R58T	p.R103T	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	308	-	Breast(56;0.135)		103			Extracellular (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.308G>C	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657846	0.47467	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.15487	2.42;2.42;2.42	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.79011	2.435	0.40252	D	0.978087	D	0.76494	0.999	D	0.74674	0.984	T	0.17776	-1.0358	10	0.66056	D	0.02	-40.9793	20.4946	0.99205	0.0:1.0:0.0:0.0	.	103	Q9P1P5	TAAR2_HUMAN	T	58;103;58	ENSP00000275191:R58T;ENSP00000356908:R103T;ENSP00000441263:R58T	ENSP00000275191:R58T	R	-	2	0	TAAR2	132980730	0.039000	0.19947	0.998000	0.56505	0.286000	0.27126	2.404000	0.44539	2.846000	0.97976	0.650000	0.86243	AGA		PASS	0.413	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		12	45	12	45	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133827274	133827274	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:133827274C>G	ENST00000367895.5	+	14	1686	c.1222C>G	c.(1222-1224)Cgc>Ggc	p.R408G	EYA4_ENST00000355286.6_Missense_Mutation_p.R385G|EYA4_ENST00000430974.2_Missense_Mutation_p.R360G|EYA4_ENST00000525849.1_Missense_Mutation_p.R385G|EYA4_ENST00000431403.2_Missense_Mutation_p.R408G|RP3-323P13.2_ENST00000451017.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.R414G|EYA4_ENST00000452339.2_Missense_Mutation_p.R354G|EYA4_ENST00000355167.3_Missense_Mutation_p.R408G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	408					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.R408G(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCTTGGACTCCGCATGGAAGA	0.323																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(1222-1224)CGC>GGC		eyes absent 4 isoform a							79.0	81.0	81.0					6																	133827274		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133827274C>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1222C>G	6.37:g.133827274C>G	ENSP00000356870:p.Arg408Gly					EYA4_uc011ecq.1_Missense_Mutation_p.R354G|EYA4_uc011ecr.1_Missense_Mutation_p.R360G|EYA4_uc003qed.3_Missense_Mutation_p.R408G|EYA4_uc003qee.3_Missense_Mutation_p.R385G|EYA4_uc011ecs.1_Missense_Mutation_p.R414G|uc003qef.1_RNA|uc003qeg.1_RNA	p.R408G	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	14	1680	+	Colorectal(23;0.221)		408					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1222C>G	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110897	0.56398	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.63	5.63	0.86233	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.112992	0.64402	D	0.000010	D	0.83755	0.5323	M	0.66939	2.045	0.80722	D	1	B;B;P;P;B;B	0.48016	0.005;0.028;0.904;0.787;0.046;0.011	B;B;P;P;B;B	0.47744	0.033;0.036;0.556;0.556;0.098;0.022	D	0.85012	0.0906	10	0.62326	D	0.03	-4.9479	20.0338	0.97549	0.0:1.0:0.0:0.0	.	414;360;354;385;408;408	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	G	354;360;408;408;385;414;385;408	ENSP00000395916:R354G;ENSP00000388670:R360G;ENSP00000356870:R408G;ENSP00000347294:R408G;ENSP00000347434:R385G;ENSP00000432770:R414G;ENSP00000433219:R385G;ENSP00000404558:R408G	ENSP00000347294:R408G	R	+	1	0	EYA4	133868967	0.956000	0.32656	1.000000	0.80357	0.831000	0.47069	1.629000	0.37071	2.816000	0.96949	0.650000	0.86243	CGC		PASS	0.323	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		6	22	6	22	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143094585	143094585	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:143094585G>A	ENST00000367604.1	-	4	1930	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R431W|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R431W			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	431					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.R431W(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTAAGCCGACAGTATTTT	0.448																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1291-1293)CGG>TGG		human immunodeficiency virus type I enhancer							110.0	103.0	106.0					6																	143094585		1924	4139	6063	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094585G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1291C>T	6.37:g.143094585G>A	ENSP00000356576:p.Arg431Trp						p.R431W	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	2034	-			431					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1291C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253111	0.59212	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.46819	0.86;0.86;0.86	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	M	0.79123	2.44	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	T	0.66763	-0.5841	10	0.87932	D	0	-19.3887	13.4791	0.61326	0.0:0.0:0.7446:0.2554	.	431	P31629	ZEP2_HUMAN	W	431	ENSP00000356576:R431W;ENSP00000356575:R431W;ENSP00000012134:R431W	ENSP00000012134:R431W	R	-	1	2	HIVEP2	143136278	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.265000	0.43311	2.882000	0.98803	0.655000	0.94253	CGG		PASS	0.448	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			21	74	21	74	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144808798	144808798	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:144808798G>A	ENST00000367545.3	+	28	3937	c.3937G>A	c.(3937-3939)Gct>Act	p.A1313T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1313					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.A1313T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAACTGGAGGCTTTCAACAG	0.498																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(3937-3939)GCT>ACT		utrophin							81.0	89.0	86.0					6																	144808798		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144808798G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3937G>A	6.37:g.144808798G>A	ENSP00000356515:p.Ala1313Thr						p.A1313T	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	28	4029	+		Ovarian(120;0.218)	1313			Spectrin 9.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.3937G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827232	0.32329	.	.	ENSG00000152818	ENST00000367545	T	0.17691	2.26	5.13	2.93	0.34026	.	0.560086	0.16035	N	0.232685	T	0.03220	0.0094	N	0.15975	0.35	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29822	-0.9999	10	0.12766	T	0.61	.	11.1226	0.48300	0.1951:0.0:0.8049:0.0	.	1313	P46939	UTRO_HUMAN	T	1313	ENSP00000356515:A1313T	ENSP00000356515:A1313T	A	+	1	0	UTRN	144850491	1.000000	0.71417	0.921000	0.36526	0.989000	0.77384	3.479000	0.53165	1.284000	0.44531	0.655000	0.94253	GCT		PASS	0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			6	48	6	48	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146256083	146256083	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:146256083G>T	ENST00000367505.2	-	13	3214	c.2950C>A	c.(2950-2952)Cca>Aca	p.P984T	SHPRH_ENST00000275233.7_Missense_Mutation_p.P984T|SHPRH_ENST00000367503.3_Missense_Mutation_p.P984T|SHPRH_ENST00000438092.2_Missense_Mutation_p.P984T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	984					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P984T(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACAGCCTGTGGGTGACAGCAG	0.438																																						uc003qlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2950-2952)CCA>ACA		SNF2 histone linker PHD RING helicase isoform a							73.0	75.0	74.0					6																	146256083		1891	4126	6017	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146256083G>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2950C>A	6.37:g.146256083G>T	ENSP00000356475:p.Pro984Thr					SHPRH_uc003qld.2_Missense_Mutation_p.P984T|SHPRH_uc003qle.2_Missense_Mutation_p.P984T|SHPRH_uc003qlg.1_Missense_Mutation_p.P540T|SHPRH_uc003qlj.1_Missense_Mutation_p.P873T|SHPRH_uc003qlh.2_5'Flank	p.P984T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	13	3349	-		Ovarian(120;0.0365)	984					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2950C>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941156	0.92526	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.91	5.91	0.95273	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91494	0.5214	10	0.72032	D	0.01	-18.2116	20.2983	0.98569	0.0:0.0:1.0:0.0	.	873;984;984	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	T	984	ENSP00000356475:P984T;ENSP00000356473:P984T;ENSP00000412797:P984T;ENSP00000275233:P984T	ENSP00000275233:P984T	P	-	1	0	SHPRH	146297776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	CCA		PASS	0.438	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		23	40	23	40	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157502211	157502211	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:157502211G>A	ENST00000350026.5	+	11	3206	c.3205G>A	c.(3205-3207)Gag>Aag	p.E1069K	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1064K|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1122K|ARID1B_ENST00000346085.5_Missense_Mutation_p.E1082K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1069	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E1082K(1)|p.E1064K(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTTCATGGAAGAGAGAGGCTC	0.577																																						uc003qqn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(3190-3192)GAG>AAG		AT rich interactive domain 1B (SWI1-like)							90.0	78.0	82.0					6																	157502211		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157502211G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3205G>A	6.37:g.157502211G>A	ENSP00000055163:p.Glu1069Lys					ARID1B_uc003qqo.2_Missense_Mutation_p.E1024K|ARID1B_uc003qqp.2_Missense_Mutation_p.E1011K|ARID1B_uc010kjl.2_Missense_Mutation_p.E209K	p.E1064K	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	12	3342	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1069			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3190G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	33	5.275372	0.95459	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.76	5.76	0.90799	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	L	0.31804	0.96	0.80722	D	1	D;D;D;D	0.67145	0.989;0.996;0.995;0.995	P;D;P;P	0.64144	0.832;0.922;0.873;0.873	T	0.68435	-0.5409	10	0.87932	D	0	.	19.9719	0.97287	0.0:0.0:1.0:0.0	.	319;1069;1082;1064	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	K	1082;1069;1122;1064;539;591;544;136	ENSP00000344546:E1082K;ENSP00000055163:E1069K;ENSP00000356116:E1122K;ENSP00000275248:E1064K;ENSP00000412835:E591K;ENSP00000313006:E544K;ENSP00000383596:E136K	ENSP00000275248:E1064K	E	+	1	0	ARID1B	157543903	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	7.876000	0.87215	2.718000	0.92993	0.650000	0.86243	GAG		PASS	0.577	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	33	6	33	---	---	---	---
WTAP	9589	broad.mit.edu	37	6	160164807	160164807	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:160164807G>A	ENST00000358372.4	+	5	2013	c.256G>A	c.(256-258)Gag>Aag	p.E86K	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.E86K	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	86					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.E86K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAAGGAACAAGAGATGCAAGA	0.358																																						uc003qsl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)GAG>AAG		Wilms' tumour 1-associating protein isoform 1							72.0	68.0	69.0					6																	160164807		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160164807G>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.256G>A	6.37:g.160164807G>A	ENSP00000351141:p.Glu86Lys					WTAP_uc010kjx.2_Missense_Mutation_p.E86K|WTAP_uc003qsk.2_Missense_Mutation_p.E86K|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.E86K	p.E86K	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	5	478	+		Breast(66;0.000776)|Ovarian(120;0.0303)	86					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.256G>A	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	37	6.343469	0.97489	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.51574	0.7;0.7	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.74647	2.275	0.80722	D	1	D;P	0.59767	0.986;0.947	P;P	0.58520	0.84;0.74	T	0.64643	-0.6359	10	0.87932	D	0	-3.1716	20.33	0.98713	0.0:0.0:1.0:0.0	.	86;86	Q15007;Q5TCL9	FL2D_HUMAN;.	K	86	ENSP00000351141:E86K;ENSP00000336911:E86K	ENSP00000336911:E86K	E	+	1	0	WTAP	160084797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.810000	0.96702	0.585000	0.79938	GAG		PASS	0.358	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		6	33	6	33	---	---	---	---
KDELR2	11014	broad.mit.edu	37	7	6505702	6505702	+	Splice_Site	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:6505702C>A	ENST00000258739.4	-	4	788	c.604G>T	c.(604-606)Gta>Tta	p.V202L	KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	202					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)	p.V202L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCCAACATACCTTTTGTAATG	0.488																																						uc003sqe.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(604-606)GTA>TTA		KDEL receptor 2 isoform 1							96.0	99.0	98.0					7																	6505702		2203	4300	6503	SO:0001630	splice_region_variant	11014				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	g.chr7:6505702C>A	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.604+1G>T	7.37:g.6505702C>A						DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron	p.V202L	NM_006854	NP_006845	P33947	ERD22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	4	765	-		Ovarian(82;0.0776)	202			Cytoplasmic (Potential).		A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	37	c.604G>T	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774518	0.90108	.	.	ENSG00000136240	ENST00000258739	T	0.77229	-1.08	5.48	5.48	0.80851	.	0.175814	0.49305	D	0.000157	D	0.85075	0.5614	M	0.82056	2.57	0.80722	D	1	P	0.46706	0.883	P	0.50570	0.644	D	0.85418	0.1141	9	.	.	.	0.6475	19.3519	0.94392	0.0:1.0:0.0:0.0	.	202	P33947	ERD22_HUMAN	L	202	ENSP00000258739:V202L	.	V	-	1	0	KDELR2	6472227	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.734000	0.84928	2.578000	0.87016	0.460000	0.39030	GTA		PASS	0.488	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2		Missense_Mutation	6	150	6	150	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15430477	15430477	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:15430477C>A	ENST00000342526.3	-	7	899	c.730G>T	c.(730-732)Gat>Tat	p.D244Y		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	244					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.D244Y(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAAATTTTATCCCAAATAATA	0.254																																						uc003stb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)GAT>TAT		transmembrane protein 195							31.0	35.0	33.0					7																	15430477		2179	4268	6447	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430477C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.730G>T	7.37:g.15430477C>A	ENSP00000341662:p.Asp244Tyr						p.D244Y	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			7	900	-			244					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.730G>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967551	0.74131	.	.	ENSG00000187546	ENST00000342526	D	0.95069	-3.6	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99184	1.0868	10	0.87932	D	0	-26.461	19.375	0.94505	0.0:1.0:0.0:0.0	.	244	Q6ZNB7	ALKMO_HUMAN	Y	244	ENSP00000341662:D244Y	ENSP00000341662:D244Y	D	-	1	0	AGMO	15397002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.039000	0.64185	2.648000	0.89879	0.591000	0.81541	GAT		PASS	0.254	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		4	7	4	7	---	---	---	---
PPP1R17	10842	broad.mit.edu	37	7	31746859	31746859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:31746859G>T	ENST00000342032.3	+	5	1058	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Nonsense_Mutation_p.E93*	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	144					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.E144*(1)									AGCAATCGTGGAAGATGACGA	0.428																																						uc003tcl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(430-432)GAA>TAA		G-substrate isoform 1							138.0	118.0	125.0					7																	31746859		2203	4300	6503	SO:0001587	stop_gained	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31746859G>T	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.430G>T	7.37:g.31746859G>T	ENSP00000340125:p.Glu144*					C7orf16_uc011kaf.1_Nonsense_Mutation_p.E93*	p.E144*	NM_006658	NP_006649	O96001	GSUB_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		5	588	+			144					B4DE58|Q9UDQ0	Nonsense_Mutation	SNP	ENST00000342032.3	37	c.430G>T	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	41	8.661688	0.98905	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.1133	16.0536	0.80779	0.0:0.0:1.0:0.0	.	.	.	.	X	144;93	.	ENSP00000340125:E144X	E	+	1	0	C7orf16	31713384	1.000000	0.71417	0.995000	0.50966	0.828000	0.46876	4.645000	0.61404	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.428	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		16	37	16	37	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38299746	38299746	+	RNA	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:38299746G>T	ENST00000443402.2	-	0	463					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											AGCAGGTGATGATGGCAAAAT	0.458																																						uc003tge.1																			0					0						c.(889-891)ATC>ATA		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							72.0	89.0	83.0					7																	38299746		1945	4161	6106			445347							g.chr7:38299746G>T	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38299746G>T						uc003tfx.1_5'Flank|uc003tfz.1_Intron|TARP_uc003tgb.2_Silent_p.I93I|TARP_uc003tgc.1_Silent_p.I93I|TARP_uc003tgd.1_Silent_p.I93I	p.I297I			A2JGV3	A2JGV3_HUMAN			7	1268	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Silent	SNP	ENST00000443402.2	37	c.891C>A																																																																																					PASS	0.458	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		6	58	6	58	---	---	---	---
UPP1	7378	broad.mit.edu	37	7	48147012	48147012	+	Missense_Mutation	SNP	C	C	T	rs541102906		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:48147012C>T	ENST00000331803.4	+	9	1324	c.701C>T	c.(700-702)gCg>gTg	p.A234V	UPP1_ENST00000395564.4_Missense_Mutation_p.A234V|UPP1_ENST00000429491.2_Missense_Mutation_p.A97V|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.A234V			Q16831	UPP1_HUMAN	uridine phosphorylase 1	234					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.A234V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GACAAGCAGGCGTATCTGGAG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19261	0.0		0.0	False		,,,				2504	0.001					uc003toj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GCG>GTG		uridine phosphorylase 1							88.0	74.0	79.0					7																	48147012		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48147012C>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.701C>T	7.37:g.48147012C>T	ENSP00000330032:p.Ala234Val					UPP1_uc003tok.2_Missense_Mutation_p.A234V|UPP1_uc003tol.2_Missense_Mutation_p.A234V|UPP1_uc011kch.1_Missense_Mutation_p.A27V|UPP1_uc003ton.2_Missense_Mutation_p.A97V|UPP1_uc003too.2_Missense_Mutation_p.A97V	p.A234V	NM_181597	NP_853628	Q16831	UPP1_HUMAN			9	1230	+			234					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.701C>T	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842440	0.32513	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.75	1.16	0.20824	Nucleoside phosphorylase domain (1);	0.702915	0.15478	N	0.260258	D	0.83257	0.5215	L	0.37697	1.125	0.09310	N	0.999999	B;B	0.23891	0.046;0.093	B;B	0.17433	0.018;0.018	T	0.68356	-0.5430	10	0.30854	T	0.27	-4.2296	8.7876	0.34830	0.5762:0.3292:0.0:0.0946	.	97;234	Q86Y75;Q16831	.;UPP1_HUMAN	V	234;234;234;97	ENSP00000330032:A234V;ENSP00000342878:A234V;ENSP00000378931:A234V;ENSP00000406224:A97V	ENSP00000330032:A234V	A	+	2	0	UPP1	48113537	0.985000	0.35326	0.052000	0.19188	0.675000	0.39556	3.182000	0.50910	-0.021000	0.14009	0.650000	0.86243	GCG		PASS	0.602	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		8	30	8	30	---	---	---	---
WBSCR28	135886	broad.mit.edu	37	7	73279346	73279346	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:73279346C>A	ENST00000320531.2	+	2	132	c.96C>A	c.(94-96)ctC>ctA	p.L32L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	32						integral component of membrane (GO:0016021)		p.L32L(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GAGATCACCTCTATAATTTCC	0.547																																						uc003tzk.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(94-96)CTC>CTA		hypothetical protein LOC135886							287.0	295.0	293.0					7																	73279346		1911	4120	6031	SO:0001819	synonymous_variant	135886					integral to membrane		g.chr7:73279346C>A	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.96C>A	7.37:g.73279346C>A						RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	p.L32L	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			2	132	+		Lung NSC(55;0.159)	32					Q6UE04|Q8NHP4	Silent	SNP	ENST00000320531.2	37	c.96C>A	CCDS43597.1																																																																																				PASS	0.547	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		8	401	8	401	---	---	---	---
RSBN1L	222194	broad.mit.edu	37	7	77325946	77325946	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:77325946C>A	ENST00000334955.8	+	1	187	c.160C>A	c.(160-162)Cgg>Agg	p.R54R	RSBN1L-AS1_ENST00000440088.1_lincRNA|RSBN1L_ENST00000445288.1_5'Flank	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	54						nucleus (GO:0005634)		p.R54R(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGGCACCGCGGAGAGTGAA	0.652																																						uc010ldt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(160-162)CGG>AGG		round spermatid basic protein 1-like							28.0	38.0	34.0					7																	77325946		1894	4111	6005	SO:0001819	synonymous_variant	222194					nucleus		g.chr7:77325946C>A	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.160C>A	7.37:g.77325946C>A						RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	p.R54R	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			1	204	+			54					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Silent	SNP	ENST00000334955.8	37	c.160C>A	CCDS43607.1																																																																																				PASS	0.652	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		6	22	6	22	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77756572	77756572	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:77756572T>C	ENST00000354212.4	-	19	3618	c.3365A>G	c.(3364-3366)tAc>tGc	p.Y1122C	MAGI2_ENST00000419488.1_Missense_Mutation_p.Y1108C|MAGI2_ENST00000522391.1_Missense_Mutation_p.Y1122C	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1122					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.Y1122C(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)				GTGCTGCCTGTAGTCCAGTAG	0.637																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(3364-3366)TAC>TGC		membrane associated guanylate kinase, WW and PDZ							104.0	108.0	107.0					7																	77756572		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77756572T>C	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.3365A>G	7.37:g.77756572T>C	ENSP00000346151:p.Tyr1122Cys					MAGI2_uc003ugy.2_Missense_Mutation_p.Y1108C|MAGI2_uc010ldx.1_Missense_Mutation_p.Y715C	p.Y1122C	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			19	3619	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1122					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3365A>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421689	0.62622	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11169	2.89;2.9;2.8	4.75	4.75	0.60458	PDZ/DHR/GLGF (1);	0.000000	0.33670	U	0.004672	T	0.18759	0.0450	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.983;0.998;0.997	P;D;P	0.64321	0.615;0.924;0.841	T	0.02326	-1.1176	10	0.41790	T	0.15	.	14.5448	0.68020	0.0:0.0:0.0:1.0	.	1122;1108;1122	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	C	1108;1122;1122;1122	ENSP00000405766:Y1108C;ENSP00000346151:Y1122C;ENSP00000428389:Y1122C	ENSP00000346151:Y1122C	Y	-	2	0	MAGI2	77594508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.008000	0.49544	1.882000	0.54519	0.533000	0.62120	TAC		PASS	0.637	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		14	55	14	55	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83014748	83014748	+	Splice_Site	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:83014748C>A	ENST00000307792.3	-	16	2204	c.1737G>T	c.(1735-1737)ggG>ggT	p.G579G	SEMA3E_ENST00000427262.1_Splice_Site_p.G519G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	579					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G579G(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCAAAGCATCCCCTACAACAG	0.358																																						uc003uhy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1735-1737)GGG>GGT		semaphorin 3E precursor							170.0	150.0	157.0					7																	83014748		2203	4300	6503	SO:0001630	splice_region_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83014748C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1736-1G>T	7.37:g.83014748C>A							p.G579G	NM_012431	NP_036563	O15041	SEM3E_HUMAN			16	2203	-		Medulloblastoma(109;0.109)	579					B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.1737G>T	CCDS34674.1																																																																																				PASS	0.358	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	Silent	58	39	58	39	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91709280	91709280	+	Silent	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:91709280A>G	ENST00000359028.2	+	32	8094	c.7869A>G	c.(7867-7869)ttA>ttG	p.L2623L	AKAP9_ENST00000356239.3_Silent_p.L2611L|AKAP9_ENST00000358100.2_Silent_p.L2623L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2623	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L2611L(1)|p.L2623L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCAGAATTAGAAAGCCAGG	0.308			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(7831-7833)TTA>TTG		A-kinase anchor protein 9 isoform 2							66.0	73.0	71.0					7																	91709280		2203	4298	6501	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91709280A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7869A>G	7.37:g.91709280A>G						AKAP9_uc003ulf.2_Silent_p.L2603L|AKAP9_uc003uli.2_Silent_p.L2234L|AKAP9_uc003ulj.2_Silent_p.L381L	p.L2611L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		31	8058	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2623			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.7833A>G																																																																																					PASS	0.308	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		5	61	5	61	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103214585	103214585	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:103214585C>G	ENST00000428762.1	-	30	4624	c.4465G>C	c.(4465-4467)Ggg>Cgg	p.G1489R	RELN_ENST00000424685.2_Missense_Mutation_p.G1489R|RELN_ENST00000343529.5_Missense_Mutation_p.G1489R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1489					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G1489R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCCTTTTCCCAGGGCCATTG	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4465-4467)GGG>CGG		reelin isoform a							132.0	128.0	129.0					7																	103214585		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103214585C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4465G>C	7.37:g.103214585C>G	ENSP00000392423:p.Gly1489Arg					RELN_uc010liz.2_Missense_Mutation_p.G1489R	p.G1489R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	30	4625	-			1489					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4465G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006547	0.93287	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.46063	1.75;0.88;1.75	5.62	5.62	0.85841	.	0.106709	0.64402	D	0.000005	T	0.64080	0.2566	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.63980	-0.6514	10	0.72032	D	0.01	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	1489;1489	P78509-2;P78509	.;RELN_HUMAN	R	1489	ENSP00000392423:G1489R;ENSP00000345694:G1489R;ENSP00000388446:G1489R	ENSP00000345694:G1489R	G	-	1	0	RELN	103001821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.736000	0.68597	2.809000	0.96659	0.655000	0.94253	GGG		PASS	0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	67	16	67	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763735	110763735	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:110763735C>T	ENST00000422987.3	+	2	1738	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L303F|LRRN3_ENST00000451085.1_Missense_Mutation_p.L303F|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	303					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L303F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CATCGATAGTCTTGCTGTGGA	0.373																																						uc003vft.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(907-909)CTT>TTT		leucine rich repeat neuronal 3 precursor							72.0	76.0	75.0					7																	110763735		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763735C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.907C>T	7.37:g.110763735C>T	ENSP00000412417:p.Leu303Phe					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L303F|LRRN3_uc003vfs.3_Missense_Mutation_p.L303F	p.L303F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1953	+			303			Extracellular (Potential).|LRR 10.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.907C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	1.134	-0.651546	0.03506	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.62498	0.02;0.02;0.02	5.96	5.08	0.68730	.	0.000000	0.50627	D	0.000108	T	0.37293	0.0998	N	0.04880	-0.145	0.40486	D	0.980492	B	0.19200	0.034	B	0.15052	0.012	T	0.26503	-1.0101	10	0.09843	T	0.71	.	12.2554	0.54621	0.0:0.8637:0.0:0.1363	.	303	Q9H3W5	LRRN3_HUMAN	F	303	ENSP00000312001:L303F;ENSP00000397312:L303F;ENSP00000412417:L303F	ENSP00000312001:L303F	L	+	1	0	LRRN3	110550971	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.224000	0.51238	1.528000	0.49103	0.650000	0.86243	CTT		PASS	0.373	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		13	35	13	35	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763895	110763895	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:110763895C>G	ENST00000422987.3	+	2	1898	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S356C|LRRN3_ENST00000451085.1_Missense_Mutation_p.S356C|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	356					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S356C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACCATTGAGTCTCTGCCAAAC	0.458																																						uc003vft.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1066-1068)TCT>TGT		leucine rich repeat neuronal 3 precursor							99.0	87.0	91.0					7																	110763895		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763895C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1067C>G	7.37:g.110763895C>G	ENSP00000412417:p.Ser356Cys					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S356C|LRRN3_uc003vfs.3_Missense_Mutation_p.S356C	p.S356C	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2113	+			356			Extracellular (Potential).|LRR 12.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1067C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037913	0.54896	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.58652	0.32;0.32;0.32	5.81	5.81	0.92471	.	0.100971	0.44483	D	0.000445	T	0.72875	0.3515	M	0.70595	2.14	0.47276	D	0.999371	D	0.59767	0.986	P	0.56398	0.797	T	0.75056	-0.3452	10	0.87932	D	0	.	20.0656	0.97703	0.0:1.0:0.0:0.0	.	356	Q9H3W5	LRRN3_HUMAN	C	356	ENSP00000312001:S356C;ENSP00000397312:S356C;ENSP00000412417:S356C	ENSP00000312001:S356C	S	+	2	0	LRRN3	110551131	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.747000	0.94245	0.650000	0.86243	TCT		PASS	0.458	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		6	38	6	38	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127255120	127255120	+	Silent	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:127255120T>C	ENST00000341640.2	-	2	355	c.150A>G	c.(148-150)ctA>ctG	p.L50L	PAX4_ENST00000463946.1_Silent_p.L48L|PAX4_ENST00000338516.3_Silent_p.L58L|PAX4_ENST00000378740.2_Silent_p.L50L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	58	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.L50L(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGTAACGCCCTAGGATCTTGC	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(148-150)CTA>CTG		paired box 4							82.0	77.0	79.0					7																	127255120		2203	4300	6503	SO:0001819	synonymous_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255120T>C		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.150A>G	7.37:g.127255120T>C						PAX4_uc003vmf.2_Silent_p.L48L|PAX4_uc003vmg.1_Silent_p.L50L|PAX4_uc003vmh.2_Silent_p.L48L	p.L50L	NM_006193	NP_006184	O43316	PAX4_HUMAN			2	356	-			58			Paired.		O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	c.150A>G	CCDS5797.1																																																																																				PASS	0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			14	72	14	72	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143748242	143748242	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:143748242C>A	ENST00000408906.2	+	1	782	c.748C>A	c.(748-750)Ctc>Atc	p.L250I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L250I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CATGGTGGGACTCTTCTTTGG	0.592																																						uc011ktw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(748-750)CTC>ATC		olfactory receptor, family 2, subfamily A,							97.0	96.0	96.0					7																	143748242		2035	4191	6226	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748242C>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.748C>A	7.37:g.143748242C>A	ENSP00000386208:p.Leu250Ile						p.L250I	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	748	+	Melanoma(164;0.0783)		250			Helical; Name=6; (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.748C>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914696	0.33815	.	.	ENSG00000221836	ENST00000408906	T	0.00256	8.42	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29410	U	0.012233	T	0.00241	0.0007	L	0.33792	1.035	0.26846	N	0.968271	P	0.35872	0.525	P	0.46585	0.521	T	0.58031	-0.7708	10	0.49607	T	0.09	.	11.5247	0.50573	0.1784:0.8216:0.0:0.0	.	250	Q96R48	OR2A5_HUMAN	I	250	ENSP00000386208:L250I	ENSP00000386208:L250I	L	+	1	0	OR2A5	143379175	0.000000	0.05858	0.997000	0.53966	0.290000	0.27261	-0.739000	0.04866	2.797000	0.96272	0.650000	0.86243	CTC		PASS	0.592	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			28	87	28	87	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150164145	150164145	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:150164145T>G	ENST00000307271.3	+	2	933	c.359T>G	c.(358-360)gTg>gGg	p.V120G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	120	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.V120G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATCCAACAAGTGTTTGGAGCT	0.483																																						uc003whj.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(358-360)GTG>GGG		GTPase, IMAP family member 8							87.0	81.0	83.0					7																	150164145		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164145T>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.359T>G	7.37:g.150164145T>G	ENSP00000305107:p.Val120Gly						p.V120G	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	689	+			120						Missense_Mutation	SNP	ENST00000307271.3	37	c.359T>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.979254	0.53827	.	.	ENSG00000171115	ENST00000307271	T	0.06933	3.24	4.47	-1.25	0.09405	AIG1 (1);	1.912640	0.02855	N	0.129615	T	0.23688	0.0573	M	0.86805	2.84	0.09310	N	1	D	0.60575	0.988	P	0.57057	0.812	T	0.21381	-1.0247	10	0.72032	D	0.01	.	0.8741	0.01220	0.3287:0.0987:0.1704:0.4022	.	120	Q8ND71	GIMA8_HUMAN	G	120	ENSP00000305107:V120G	ENSP00000305107:V120G	V	+	2	0	GIMAP8	149795078	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.268000	0.18571	-0.371000	0.08004	0.528000	0.53228	GTG		PASS	0.483	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		9	45	9	45	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150840947	150840948	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr7:150840947_150840948GG>TT	ENST00000463381.1	+	16	2156_2157	c.1660_1661GG>TT	c.(1660-1662)GGc>TTc	p.G554F	AGAP3_ENST00000397238.2_Missense_Mutation_p.G885F	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	849	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.G885C(1)|p.G885V(1)|p.G885F(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAGGGCTGTGGCTTAGCGCCT	0.649																																						uc003wjg.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(2)|ovary(1)	3						c.(2653-2655)GGC>TGC|c.(2653-2655)GGC>GTC		centaurin, gamma 3 isoform a																																				SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840947G>T|g.chr7:150840948G>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	Exception_encountered	7.37:g.150840947_150840948delinsTT	ENSP00000418016:p.Gly554Phe					AGAP3_uc003wje.1_Missense_Mutation_p.G554C|AGAP3_uc003wjj.1_Missense_Mutation_p.G384C|AGAP3_uc003wjk.1_Missense_Mutation_p.G303C|AGAP3_uc003wje.1_Missense_Mutation_p.G554V|AGAP3_uc003wjj.1_Missense_Mutation_p.G384V|AGAP3_uc003wjk.1_Missense_Mutation_p.G303V	p.G885C|p.G885V	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			18	2656|2657	+			849					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2653G>T|c.2654G>T																																																																																					PASS	0.649	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		11|12	33|32	11	32	---	---	---	---
GSR	2936	broad.mit.edu	37	8	30539494	30539494	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:30539494G>A	ENST00000221130.5	-	11	1328	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	GSR_ENST00000414019.1_Missense_Mutation_p.T370I|GSR_ENST00000541648.1_Missense_Mutation_p.T360I|GSR_ENST00000546342.1_Missense_Mutation_p.T384I|GSR_ENST00000537535.1_Missense_Mutation_p.T331I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	413					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.T413I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	GAAGACCACAGTTGGGATGTT	0.428																																						uc003xih.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1237-1239)ACT>ATT		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						102.0	110.0	107.0					8																	30539494		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30539494G>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1238C>T	8.37:g.30539494G>A	ENSP00000221130:p.Thr413Ile						p.T413I	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	11	1329	-			413					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.1238C>T	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925042	0.92319	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.56	5.56	0.83823	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99044	1.0825	10	0.87932	D	0	-21.4728	17.0923	0.86625	0.0:0.0:1.0:0.0	.	413	P00390	GSHR_HUMAN	I	413;370;384;360;331	ENSP00000221130:T413I;ENSP00000390065:T370I;ENSP00000445516:T384I;ENSP00000444559:T360I;ENSP00000438845:T331I	ENSP00000221130:T413I	T	-	2	0	GSR	30659036	1.000000	0.71417	0.932000	0.37286	0.975000	0.68041	8.746000	0.91604	2.622000	0.88805	0.644000	0.83932	ACT		PASS	0.428	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			8	33	8	33	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39525607	39525607	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:39525607C>G	ENST00000265707.5	+	14	1462	c.1417C>G	c.(1417-1419)Cct>Gct	p.P473A	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P449A	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	473	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P473A(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAATTGTGTTCCTGACACTTA	0.418																																						uc003xni.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1417-1419)CCT>GCT		a disintegrin and metalloprotease domain 18							225.0	205.0	212.0					8																	39525607		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525607C>G	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1417C>G	8.37:g.39525607C>G	ENSP00000265707:p.Pro473Ala					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P449A	p.P473A	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1417	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	473			Disintegrin.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1417C>G	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146840	0.57151	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.10477	2.87;2.87	5.35	4.44	0.53790	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.47093	D	0.000245	T	0.14270	0.0345	L	0.35487	1.065	0.80722	D	1	P;P	0.45474	0.83;0.859	P;P	0.54706	0.646;0.759	T	0.04621	-1.0938	10	0.10636	T	0.68	.	12.0491	0.53498	0.0:0.8276:0.1724:0.0	.	449;473	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	A	473;449;405	ENSP00000265707:P473A;ENSP00000369195:P449A	ENSP00000265707:P473A	P	+	1	0	ADAM18	39644764	0.929000	0.31497	1.000000	0.80357	0.907000	0.53573	0.691000	0.25467	2.792000	0.96026	0.555000	0.69702	CCT		PASS	0.418	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		29	38	29	38	---	---	---	---
HGSNAT	138050	broad.mit.edu	37	8	43037324	43037324	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:43037324A>T	ENST00000458501.2	+	11	1133	c.1133A>T	c.(1132-1134)cAg>cTg	p.Q378L	HGSNAT_ENST00000521576.1_Missense_Mutation_p.Q67L|HGSNAT_ENST00000379644.4_Missense_Mutation_p.Q350L|HGSNAT_ENST00000297798.7_Missense_Mutation_p.Q82L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	378					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.Q82L(1)|p.Q378L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGTGTGCTGCAGCGATTGGGA	0.483																																						uc003xpx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1048-1050)CAG>CTG		heparan-alpha-glucosaminide N-acetyltransferase							449.0	447.0	447.0					8																	43037324		2115	4233	6348	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43037324A>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1133A>T	8.37:g.43037324A>T	ENSP00000389524:p.Gln378Leu						p.Q350L	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		11	1097	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	378			Helical; (Potential).		B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.1049A>T		.	.	.	.	.	.	.	.	.	.	A	18.39	3.613643	0.66672	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082;ENST00000521576;ENST00000297798	D;D;D;D;D	0.91351	-2.74;-2.74;-2.83;-2.12;-2.12	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	H	0.95816	3.725	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.97108	0.9802	10	0.87932	D	0	-6.0454	11.6652	0.51370	1.0:0.0:0.0:0.0	.	378	Q68CP4	HGNAT_HUMAN	L	378;350;97;67;82	ENSP00000389524:Q378L;ENSP00000368965:Q350L;ENSP00000430151:Q97L;ENSP00000429029:Q67L;ENSP00000297798:Q82L	ENSP00000297798:Q82L	Q	+	2	0	HGSNAT	43156481	1.000000	0.71417	0.979000	0.43373	0.438000	0.31896	7.337000	0.79256	2.071000	0.62044	0.529000	0.55759	CAG		PASS	0.483	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		110	504	110	504	---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51664659	51664659	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:51664659G>C	ENST00000522124.1	+	18	2044	c.1383G>C	c.(1381-1383)caG>caC	p.Q461H	SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q461H|SNTG1_ENST00000517473.1_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	461					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.Q461H(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATACTAAACAGATTGAAGCAA	0.373																																						uc010lxy.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(1381-1383)CAG>CAC		syntrophin, gamma 1							95.0	96.0	96.0					8																	51664659		2203	4299	6502	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51664659G>C	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1383G>C	8.37:g.51664659G>C	ENSP00000429842:p.Gln461His					SNTG1_uc003xqs.1_Missense_Mutation_p.Q461H|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA	p.Q461H	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			19	1754	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	461					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1383G>C	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391643	0.42410	.	.	ENSG00000147481	ENST00000518864;ENST00000522124	T;T	0.73258	-0.73;-0.73	5.09	5.09	0.68999	.	0.160438	0.56097	D	0.000040	T	0.61862	0.2381	L	0.41492	1.28	0.80722	D	1	P	0.50943	0.94	P	0.44732	0.459	T	0.63554	-0.6611	10	0.48119	T	0.1	-18.6866	7.7622	0.28959	0.1811:0.0:0.8189:0.0	.	461	Q9NSN8	SNTG1_HUMAN	H	461	ENSP00000429276:Q461H;ENSP00000429842:Q461H	ENSP00000429276:Q461H	Q	+	3	2	SNTG1	51827212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.671000	0.25172	2.511000	0.84671	0.573000	0.79308	CAG		PASS	0.373	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			3	21	3	21	---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59404141	59404141	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:59404141T>A	ENST00000301645.3	-	6	1545	c.1408A>T	c.(1408-1410)Ata>Tta	p.I470L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	470					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.I470L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGGCCCTCTATAAGCTCCAAT	0.408									Neonatal Giant Cell Hepatitis																													uc003xtm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1408-1410)ATA>TTA		cytochrome P450, family 7, subfamily A,							56.0	58.0	57.0					8																	59404141		2203	4300	6503	SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404141T>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1408A>T	8.37:g.59404141T>A	ENSP00000301645:p.Ile470Leu						p.I470L	NM_000780	NP_000771	P22680	CP7A1_HUMAN			6	1471	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	470					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1408A>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	t	6.429	0.447199	0.12223	.	.	ENSG00000167910	ENST00000301645	T	0.68025	-0.3	5.87	5.0	0.66597	.	0.111159	0.64402	D	0.000007	T	0.45175	0.1329	N	0.11023	0.085	0.21256	N	0.999745	B	0.02656	0.0	B	0.06405	0.002	T	0.19418	-1.0306	10	0.16420	T	0.52	-23.3024	12.6278	0.56640	0.0:0.8663:0.0:0.1337	.	470	P22680	CP7A1_HUMAN	L	470	ENSP00000301645:I470L	ENSP00000301645:I470L	I	-	1	0	CYP7A1	59566695	0.628000	0.27138	0.889000	0.34880	0.177000	0.22998	1.170000	0.31883	1.627000	0.50400	-0.146000	0.13790	ATA		PASS	0.408	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		11	48	11	48	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71082563	71082563	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:71082563C>A	ENST00000452400.2	-	6	596	c.415G>T	c.(415-417)Gtg>Ttg	p.V139L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	139	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.V139L(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTCTCTGACACAAACACAACG	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(415-417)GTG>TTG		nuclear receptor coactivator 2							105.0	91.0	96.0					8																	71082563		1900	4121	6021	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71082563C>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.415G>T	8.37:g.71082563C>A	ENSP00000399968:p.Val139Leu						p.V139L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		6	577	-	Breast(64;0.201)		139			PAS.		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.415G>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312327	0.95655	.	.	ENSG00000140396	ENST00000452400	T	0.20881	2.04	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.28808	-1.0032	10	0.54805	T	0.06	.	19.357	0.94418	0.0:1.0:0.0:0.0	.	139	Q15596	NCOA2_HUMAN	L	139	ENSP00000399968:V139L	ENSP00000399968:V139L	V	-	1	0	NCOA2	71245117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.566000	0.86566	0.650000	0.86243	GTG		PASS	0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			11	25	11	25	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763640	77763640	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:77763640C>A	ENST00000521891.2	+	10	4931	c.4483C>A	c.(4483-4485)Cac>Aac	p.H1495N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1450N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1450N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1469N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1450					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.H1495N(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)			TGAGGTGGACCACGAAGGGAA	0.507										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4348-4350)CAC>AAC		zinc finger homeodomain 4							55.0	52.0	53.0					8																	77763640		2020	4177	6197	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763640C>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.4483C>A	8.37:g.77763640C>A	ENSP00000430497:p.His1495Asn	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.H1495N|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1450N	p.H1450N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4735	+			1450					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4348C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292039	0.40594	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47528	0.84;0.89;0.86;0.85	5.05	5.05	0.67936	.	0.160789	0.29342	U	0.012423	T	0.35508	0.0934	N	0.22421	0.69	0.52501	D	0.999959	B;B;B	0.22211	0.039;0.066;0.066	B;B;B	0.18561	0.01;0.022;0.022	T	0.11397	-1.0589	10	0.17369	T	0.5	.	18.5796	0.91166	0.0:1.0:0.0:0.0	.	1450;1450;1495	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1495;1495;1450;1450;1469	ENSP00000430497:H1495N;ENSP00000399605:H1450N;ENSP00000050961:H1450N;ENSP00000430848:H1469N	ENSP00000050961:H1450N	H	+	1	0	ZFHX4	77926195	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.629000	0.89072	0.555000	0.69702	CAC		PASS	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	55	5	55	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885863	88885863	+	Missense_Mutation	SNP	G	G	A	rs560566567		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:88885863G>A	ENST00000319675.3	-	1	433	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	113								p.R113W(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGTATACCCGGAGCTCAGGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19040	0.0		0.001	False		,,,				2504	0.0					uc003ydz.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(337-339)CGG>TGG		WD repeat domain 21C							134.0	129.0	131.0					8																	88885863		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885863G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.337C>T	8.37:g.88885863G>A	ENSP00000316496:p.Arg113Trp						p.R113W	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	434	-			113						Missense_Mutation	SNP	ENST00000319675.3	37	c.337C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	9.197	1.027510	0.19512	.	.	ENSG00000176566	ENST00000319675	T	0.62105	0.05	1.39	-2.79	0.05841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.604357	0.19009	N	0.125123	T	0.37598	0.1009	N	0.08118	0	0.09310	N	1	P	0.46395	0.877	P	0.44860	0.462	T	0.43196	-0.9406	10	0.66056	D	0.02	.	6.4276	0.21778	0.0:0.0:0.4796:0.5203	.	113	Q8NA75	DC4L2_HUMAN	W	113	ENSP00000316496:R113W	ENSP00000316496:R113W	R	-	1	2	DCAF4L2	88954979	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	1.618000	0.36954	-0.170000	0.10816	-0.706000	0.03657	CGG		PASS	0.537	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		28	64	28	64	---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94746211	94746211	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:94746211C>A	ENST00000399300.2	-	3	2641	c.2428G>T	c.(2428-2430)Gac>Tac	p.D810Y	RBM12B_ENST00000517700.1_Missense_Mutation_p.D690Y|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	810							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D810Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCCCTGAAGTCTTCATCTGGT	0.577																																						uc003yfz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2428-2430)GAC>TAC		RNA binding motif protein 12B							59.0	61.0	60.0					8																	94746211		1828	4075	5903	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746211C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2428G>T	8.37:g.94746211C>A	ENSP00000382239:p.Asp810Tyr						p.D810Y	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2621	-	Breast(36;4.14e-07)		810					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2428G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593100	0.66219	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07688	3.19;3.17	4.56	4.56	0.56223	.	.	.	.	.	T	0.18923	0.0454	L	0.29908	0.895	0.31213	N	0.698409	D	0.76494	0.999	D	0.73380	0.98	T	0.01039	-1.1472	9	0.72032	D	0.01	-21.7866	15.6487	0.77073	0.0:1.0:0.0:0.0	.	810	Q8IXT5	RB12B_HUMAN	Y	810;690	ENSP00000382239:D810Y;ENSP00000427729:D690Y	ENSP00000382239:D810Y	D	-	1	0	RBM12B	94815387	0.690000	0.27699	1.000000	0.80357	0.984000	0.73092	1.501000	0.35693	2.817000	0.96982	0.563000	0.77884	GAC		PASS	0.577	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		16	85	16	85	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100513915	100513915	+	Splice_Site	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:100513915G>C	ENST00000358544.2	+	26	3982	c.3871G>C	c.(3871-3873)Gga>Cga	p.G1291R	VPS13B_ENST00000357162.2_Splice_Site_p.G1291R|VPS13B_ENST00000395996.1_Splice_Site_p.G1291R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1291					protein transport (GO:0015031)			p.G1291R(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCATCCCAGGGAGATTCTAT	0.308																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3871-3873)GGA>CGA		vacuolar protein sorting 13B isoform 5							97.0	97.0	97.0					8																	100513915		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100513915G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3871-1G>C	8.37:g.100513915G>C						VPS13B_uc003yiw.2_Missense_Mutation_p.G1291R|VPS13B_uc003yiu.1_Missense_Mutation_p.G1291R|VPS13B_uc003yix.1_Missense_Mutation_p.G761R	p.G1291R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		26	3982	+	Breast(36;3.73e-07)		1291					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3871G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374812	0.82573	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.46451	0.87;0.87;0.87	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.999;0.988	T	0.60490	-0.7253	9	.	.	.	.	18.448	0.90693	0.0:0.0:1.0:0.0	.	1290;1291;1291;1291	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	R	1291	ENSP00000349685:G1291R;ENSP00000351346:G1291R;ENSP00000379318:G1291R	.	G	+	1	0	VPS13B	100583091	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.691000	0.84191	2.416000	0.81992	0.557000	0.71058	GGA		PASS	0.308	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Missense_Mutation	6	63	6	63	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113668571	113668571	+	Splice_Site	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:113668571C>A	ENST00000297405.5	-	18	3061		c.e18-1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTCTGAAATCTAAGATTAAA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Unknown(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.e18-1		CUB and Sushi multiple domains 3 isoform 1							48.0	51.0	50.0					8																	113668571		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113668571C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2817-1G>T	8.37:g.113668571C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Splice_Site_p.R211_splice|CSMD3_uc003ynt.2_Splice_Site_p.R899_splice|CSMD3_uc011lhx.1_Splice_Site_p.R835_splice	p.R939_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			18	2976	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.2817_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545589	0.45280	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9343	0.92579	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113737747	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	7.776000	0.85560	2.542000	0.85734	0.591000	0.81541	.		PASS	0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	4	15	4	15	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114111088	114111088	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:114111088C>A	ENST00000297405.5	-	5	1058	c.814G>T	c.(814-816)Gta>Tta	p.V272L	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.V232L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V272L|CSMD3_ENST00000352409.3_Missense_Mutation_p.V272L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	272	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V232L(1)|p.V272L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCTCTGCTACAATGGTCCAA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(814-816)GTA>TTA		CUB and Sushi multiple domains 3 isoform 1							120.0	106.0	111.0					8																	114111088		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114111088C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.814G>T	8.37:g.114111088C>A	ENSP00000297405:p.Val272Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.V232L|CSMD3_uc011lhx.1_Missense_Mutation_p.V272L|CSMD3_uc010mcx.1_Missense_Mutation_p.V272L	p.V272L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			5	973	-			272			Extracellular (Potential).|CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.814G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	7.659	0.684598	0.14973	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.41	5.41	0.78517	CUB (5);	0.098573	0.42821	D	0.000657	T	0.10594	0.0259	N	0.10664	0.02	0.31801	N	0.628345	B;B;B;B	0.15141	0.0;0.001;0.002;0.012	B;B;B;B	0.20384	0.001;0.002;0.01;0.029	T	0.06826	-1.0805	10	0.10636	T	0.68	.	19.559	0.95364	0.0:1.0:0.0:0.0	.	272;272;272;232	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	L	232;272;272;272	ENSP00000345799:V232L;ENSP00000297405:V272L;ENSP00000412263:V272L;ENSP00000343124:V272L	ENSP00000297405:V272L	V	-	1	0	CSMD3	114180264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.824000	0.48088	2.707000	0.92482	0.655000	0.94253	GTA		PASS	0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	13	5	13	---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431549	120431549	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:120431549G>T	ENST00000259526.3	+	4	968	c.741G>T	c.(739-741)cgG>cgT	p.R247R	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	1567	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.R247R(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GCATGGTGCGGCCCTGTGAAC	0.562																																						uc003yoq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|kidney(1)	5						c.(739-741)CGG>CGT		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						107.0	101.0	103.0					8																	120431549		2203	4300	6503	SO:0001819	synonymous_variant	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120431549G>T	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.741G>T	8.37:g.120431549G>T							p.R247R	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		4	962	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		247			TSP type-1.			Silent	SNP	ENST00000259526.3	37	c.741G>T	CCDS6328.1																																																																																				PASS	0.562	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		26	110	26	110	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964442	123964442	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:123964442G>T	ENST00000314393.4	+	3	1527	c.692G>T	c.(691-693)gGg>gTg	p.G231V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	231	Required for homodimerization.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G231V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGACTCGGCGGGGTGGAGCTC	0.577																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(691-693)GGG>GTG		zinc fingers and homeoboxes 2							114.0	123.0	120.0					8																	123964442		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964442G>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.692G>T	8.37:g.123964442G>T	ENSP00000314709:p.Gly231Val						p.G231V	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1259	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		231			Required for homodimerization.			Missense_Mutation	SNP	ENST00000314393.4	37	c.692G>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	8.608	0.888464	0.17540	.	.	ENSG00000178764	ENST00000314393	T	0.20463	2.07	5.63	5.63	0.86233	.	0.350601	0.26542	N	0.023789	T	0.29458	0.0734	L	0.40543	1.245	0.52501	D	0.999959	P	0.41748	0.761	P	0.46629	0.522	T	0.00657	-1.1623	10	0.52906	T	0.07	-16.6233	20.047	0.97613	0.0:0.0:1.0:0.0	.	231	Q9Y6X8	ZHX2_HUMAN	V	231	ENSP00000314709:G231V	ENSP00000314709:G231V	G	+	2	0	ZHX2	124033623	0.977000	0.34250	0.775000	0.31657	0.047000	0.14425	6.291000	0.72719	2.821000	0.97095	0.555000	0.69702	GGG		PASS	0.577	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		37	105	37	105	---	---	---	---
KHDRBS3	10656	broad.mit.edu	37	8	136594138	136594138	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr8:136594138C>A	ENST00000355849.5	+	6	1039	c.629C>A	c.(628-630)aCa>aAa	p.T210K	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	210					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T210K(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GGAGGAGTTACAGCCCGGCCA	0.493																																						uc003yuv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(628-630)ACA>AAA		KH domain containing, RNA binding, signal							90.0	90.0	90.0					8																	136594138		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136594138C>A	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.629C>A	8.37:g.136594138C>A	ENSP00000348108:p.Thr210Lys					KHDRBS3_uc003yuw.2_Missense_Mutation_p.T210K|KHDRBS3_uc010mek.2_RNA	p.T210K	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		6	1023	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		210					Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.629C>A	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.75|14.75	2.628343|2.628343	0.46944|0.46944	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.42513	.|0.97	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.365606	.|0.35615	.|N	.|0.003096	T|T	0.36413|0.36413	0.0966|0.0966	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24426	.|0.039;0.103	.|B;B	.|0.26094	.|0.023;0.066	T|T	0.06588|0.06588	-1.0818|-1.0818	5|10	.|0.25106	.|T	.|0.35	-9.9618|-9.9618	19.632|19.632	0.95713|0.95713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|210;210	.|O75525-2;O75525	.|.;KHDR3_HUMAN	K|K	125|210;182	.|ENSP00000348108:T210K	.|ENSP00000348108:T210K	Q|T	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136663320|136663320	0.661000|0.661000	0.27430|0.27430	0.988000|0.988000	0.46212|0.46212	0.858000|0.858000	0.48976|0.48976	5.333000|5.333000	0.65917|0.65917	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	CAG|ACA		PASS	0.493	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			24	43	24	43	---	---	---	---
SLC1A1	6505	broad.mit.edu	37	9	4576030	4576030	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:4576030C>T	ENST00000262352.3	+	9	1141	c.905C>T	c.(904-906)cCg>cTg	p.P302L		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	302					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.P302L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GTAATTCTCCCGCTGATATAT	0.413																																						uc003zij.1																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)CCG>CTG		solute carrier family 1, member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						103.0	97.0	99.0					9																	4576030		2203	4300	6503	SO:0001583	missense	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4576030C>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.905C>T	9.37:g.4576030C>T	ENSP00000262352:p.Pro302Leu					C9orf68_uc003zik.2_Intron	p.P302L	NM_004170	NP_004161	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	9	1141	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	302			Helical; (Potential).		O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	c.905C>T	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749835	0.69533	.	.	ENSG00000106688	ENST00000262352	T	0.59906	0.23	5.39	5.39	0.77823	.	0.101830	0.64402	D	0.000002	T	0.77103	0.4081	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.79196	-0.1903	10	0.87932	D	0	.	19.5203	0.95182	0.0:1.0:0.0:0.0	.	302	P43005	EAA3_HUMAN	L	302	ENSP00000262352:P302L	ENSP00000262352:P302L	P	+	2	0	SLC1A1	4566030	1.000000	0.71417	0.994000	0.49952	0.905000	0.53344	7.760000	0.85248	2.678000	0.91216	0.655000	0.94253	CCG		PASS	0.413	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			25	31	25	31	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6550883	6550883	+	Missense_Mutation	SNP	G	G	T	rs386833560		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:6550883G>T	ENST00000321612.6	-	21	2639	c.2489C>A	c.(2488-2490)aCg>aAg	p.T830K		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	830					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.T830K(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CGCAGTTTCCGTGGCTTGTTT	0.423																																						uc003zkc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2	GRCh37	CM061016	GLDC	M		c.(2488-2490)ACG>AAG		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						233.0	218.0	223.0					9																	6550883		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6550883G>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2489C>A	9.37:g.6550883G>T	ENSP00000370737:p.Thr830Lys						p.T830K	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	21	2682	-		Acute lymphoblastic leukemia(23;0.161)	830					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2489C>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188071	0.78789	.	.	ENSG00000178445	ENST00000321612	D	0.84873	-1.91	4.74	4.74	0.60224	Pyridoxal phosphate-dependent transferase, major domain (1);	0.103999	0.64402	D	0.000006	D	0.93307	0.7867	H	0.97158	3.95	0.80722	D	1	D	0.60575	0.988	P	0.52217	0.693	D	0.95800	0.8832	10	0.87932	D	0	-14.6288	18.098	0.89497	0.0:0.0:1.0:0.0	.	830	P23378	GCSP_HUMAN	K	830	ENSP00000370737:T830K	ENSP00000370737:T830K	T	-	2	0	GLDC	6540883	1.000000	0.71417	0.984000	0.44739	0.555000	0.35460	9.230000	0.95299	2.348000	0.79779	0.455000	0.32223	ACG		PASS	0.423	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		98	59	98	59	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8486189	8486189	+	Silent	SNP	T	T	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:8486189T>C	ENST00000381196.4	-	25	3171	c.2628A>G	c.(2626-2628)aaA>aaG	p.K876K	PTPRD_ENST00000540109.1_Silent_p.K876K|PTPRD_ENST00000356435.5_Silent_p.K876K|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Silent_p.K854K|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Silent_p.K863K|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	876	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K876K(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGATCTTCTTTTTCAGAGA	0.498										TSP Lung(15;0.13)																												uc003zkk.2																			1	Substitution - coding silent(1)		lung(1)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2626-2628)AAA>AAG		protein tyrosine phosphatase, receptor type, D							92.0	89.0	90.0					9																	8486189		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8486189T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2628A>G	9.37:g.8486189T>C		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.K867K|PTPRD_uc003zkm.2_Silent_p.K863K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.K876K	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3339	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	876			Fibronectin type-III 6.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2628A>G	CCDS43786.1																																																																																				PASS	0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			158	33	158	33	---	---	---	---
CER1	9350	broad.mit.edu	37	9	14720184	14720184	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:14720184C>A	ENST00000380911.3	-	2	752	c.708G>T	c.(706-708)gtG>gtT	p.V236V		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	236	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)	p.V236V(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GGCACTCCTCCACCAGCATCA	0.522																																						uc003zlj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(706-708)GTG>GTT		cerberus 1 precursor							129.0	106.0	114.0					9																	14720184		2203	4300	6503	SO:0001819	synonymous_variant	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720184C>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.708G>T	9.37:g.14720184C>A							p.V236V	NM_005454	NP_005445	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	753	-			236			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	37	c.708G>T	CCDS6476.1																																																																																				PASS	0.522	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		6	97	6	97	---	---	---	---
FANCG	2189	broad.mit.edu	37	9	35079502	35079503	+	Missense_Mutation	DNP	GA	GA	AT	rs35984312	byFrequency	TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:35079502_35079503GA>AT	ENST00000378643.3	-	1	510_511	c.19_20TC>AT	c.(19-21)TCt>ATt	p.S7I	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	7					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.S7I(1)|p.S7T(1)|p.S7F(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGAGCCCACAGAGGTGGTCTGG	0.649			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														uc003zwb.1			yes	Rec		Fanconi anaemia G	9	9p13	2189	Mis|N|F|S	"""Fanconi anemia, complementation group G"""			L		AML|leukemia			3	Substitution - Missense(3)		lung(3)	ovary(2)|large_intestine(1)|lung(1)	4						c.(19-21)TCT>TTT|c.(19-21)TCT>ACT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group G																																				SO:0001583	missense	2189	Fanconi_Anemia			cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079502G>A|g.chr9:35079503A>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.19_20delinsAT	9.37:g.35079502_35079503delinsAT	ENSP00000367910:p.Ser7Ile					FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S7F|FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S7T	p.S7F|p.S7T	NM_004629	NP_004620	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	512|511	-			7						Missense_Mutation	SNP	ENST00000378643.3	37	c.20C>T|c.19T>A	CCDS6574.1																																																																																				PASS	0.649	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		8	46|45	8	45	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35720477	35720477	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:35720477T>A	ENST00000314888.9	-	12	1589	c.1236A>T	c.(1234-1236)gaA>gaT	p.E412D	TLN1_ENST00000540444.1_Missense_Mutation_p.E412D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	412	Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.E412D(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCATCTCCTTCCAGCCCAA	0.488																																						uc003zxt.2																			1	Substitution - Missense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(1234-1236)GAA>GAT		talin 1							194.0	197.0	196.0					9																	35720477		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720477T>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1236A>T	9.37:g.35720477T>A	ENSP00000316029:p.Glu412Asp						p.E412D	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		12	1590	-	all_epithelial(49;0.167)		412			Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1236A>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599106	0.46318	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.43294	0.95;0.95	5.85	-1.08	0.09936	.	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	L	0.49571	1.57	0.58432	D	0.999998	B	0.23854	0.092	B	0.24006	0.05	T	0.14420	-1.0473	10	0.29301	T	0.29	-26.1625	12.367	0.55234	0.0:0.4672:0.0:0.5328	.	412	Q9Y490	TLN1_HUMAN	D	412	ENSP00000316029:E412D;ENSP00000442981:E412D	ENSP00000316029:E412D	E	-	3	2	TLN1	35710477	0.265000	0.24102	0.996000	0.52242	0.965000	0.64279	-0.274000	0.08537	-0.098000	0.12285	-0.912000	0.02778	GAA		PASS	0.488	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		87	113	87	113	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37126431	37126431	+	Missense_Mutation	SNP	A	A	T	rs184041561		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:37126431A>T	ENST00000336755.5	+	2	208	c.102A>T	c.(100-102)caA>caT	p.Q34H	ZCCHC7_ENST00000322831.6_Missense_Mutation_p.Q33H|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	34						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q34H(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TGGAATTTCAACTCTATAGCC	0.398																																						uc003zzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(100-102)CAA>CAT		zinc finger, CCHC domain containing 7							168.0	161.0	163.0					9																	37126431		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126431A>T	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.102A>T	9.37:g.37126431A>T	ENSP00000337839:p.Gln34His					ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.Q33H|ZCCHC7_uc010mlt.2_Missense_Mutation_p.Q33H|ZCCHC7_uc003zzs.1_Missense_Mutation_p.Q33H	p.Q34H	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	275	+			34					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.102A>T	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867387	0.32977	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.38560	1.77;1.13	5.64	-3.84	0.04256	.	0.253670	0.40554	N	0.001078	T	0.20088	0.0483	L	0.39633	1.23	0.80722	D	1	P;B	0.36412	0.552;0.126	B;B	0.31751	0.135;0.041	T	0.09952	-1.0651	10	0.20046	T	0.44	-6.6777	2.3954	0.04388	0.4358:0.1707:0.2811:0.1124	.	34;34	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	H	34;33	ENSP00000337839:Q34H;ENSP00000316365:Q33H	ENSP00000316365:Q33H	Q	+	3	2	ZCCHC7	37116431	0.661000	0.27430	0.972000	0.41901	0.903000	0.53119	-0.488000	0.06497	-0.573000	0.05998	-1.004000	0.02495	CAA		PASS	0.398	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		10	72	10	72	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79968365	79968365	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:79968365A>G	ENST00000360280.3	+	54	7720	c.7460A>G	c.(7459-7461)tAt>tGt	p.Y2487C	VPS13A_ENST00000376634.4_Missense_Mutation_p.Y2487C|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y2448C|VPS13A_ENST00000357409.5_Missense_Mutation_p.Y2487C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2487					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.Y2487C(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGACAATATATTTAGTTTCA	0.299																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(7459-7461)TAT>TGT		vacuolar protein sorting 13A isoform A							76.0	79.0	78.0					9																	79968365		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79968365A>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7460A>G	9.37:g.79968365A>G	ENSP00000353422:p.Tyr2487Cys					VPS13A_uc004akp.3_Missense_Mutation_p.Y2487C|VPS13A_uc004akq.3_Missense_Mutation_p.Y2487C|VPS13A_uc004aks.2_Missense_Mutation_p.Y2448C	p.Y2487C	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			54	7720	+			2487					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7460A>G	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228064	0.58777	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.22	5.22	0.72569	.	0.000000	0.48767	D	0.000164	T	0.66376	0.2783	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;P;D;D	0.72075	0.976;0.907;0.969;0.969	T	0.69614	-0.5098	10	0.44086	T	0.13	.	15.081	0.72113	1.0:0.0:0.0:0.0	.	2448;2487;2487;2487	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	C	2487;2448;2487;2487	ENSP00000365821:Y2487C;ENSP00000365823:Y2448C;ENSP00000353422:Y2487C;ENSP00000349985:Y2487C	ENSP00000349985:Y2487C	Y	+	2	0	VPS13A	79158185	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	3.217000	0.51184	1.954000	0.56735	0.482000	0.46254	TAT		PASS	0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		4	25	4	25	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107645435	107645435	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:107645435C>A	ENST00000374736.3	-	5	700	c.306G>T	c.(304-306)gtG>gtT	p.V102V	ABCA1_ENST00000374733.1_Silent_p.V42V|ABCA1_ENST00000423487.2_Silent_p.V102V	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	102					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.V102V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACAGGCGAGCCACACTGTAAA	0.493																																						uc004bcl.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(304-306)GTG>GTT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						80.0	82.0	81.0					9																	107645435		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107645435C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.306G>T	9.37:g.107645435C>A						ABCA1_uc004bcm.2_Silent_p.V42V	p.V102V	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	5	619	-			102			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.306G>T	CCDS6762.1																																																																																				PASS	0.493	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		17	73	17	73	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120476154	120476154	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:120476154G>T	ENST00000355622.6	+	3	1849	c.1748G>T	c.(1747-1749)tGt>tTt	p.C583F	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.C543F	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	583	LRRCT.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.C583F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GACTTTGCTTGTACTTGTGAA	0.408																																						uc004bjz.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1747-1749)TGT>TTT		toll-like receptor 4 precursor							82.0	73.0	76.0					9																	120476154		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476154G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1748G>T	9.37:g.120476154G>T	ENSP00000363089:p.Cys583Phe					TLR4_uc004bka.2_Missense_Mutation_p.C543F|TLR4_uc004bkb.2_Missense_Mutation_p.C383F	p.C583F	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2039	+			583			LRRCT.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1748G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909861	0.72983	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00882	5.58;5.58	6.02	6.02	0.97574	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00193	-1.1934	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	583	O00206	TLR4_HUMAN	F	543;583	ENSP00000377997:C543F;ENSP00000363089:C583F	ENSP00000363089:C583F	C	+	2	0	TLR4	119515975	1.000000	0.71417	0.987000	0.45799	0.898000	0.52572	5.672000	0.68102	2.857000	0.98124	0.650000	0.86243	TGT		PASS	0.408	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		15	29	15	29	---	---	---	---
NSMF	26012	broad.mit.edu	37	9	140347593	140347593	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr9:140347593G>T	ENST00000371475.3	-	9	1193	c.962C>A	c.(961-963)gCc>gAc	p.A321D	NSMF_ENST00000392812.4_Missense_Mutation_p.A298D|NSMF_ENST00000265663.7_Missense_Mutation_p.A319D|NSMF_ENST00000371473.3_Missense_Mutation_p.A291D|NSMF_ENST00000371482.1_5'UTR|NSMF_ENST00000371468.1_Missense_Mutation_p.A54D|NSMF_ENST00000371474.3_Missense_Mutation_p.A296D|NSMF_ENST00000437259.1_Missense_Mutation_p.A298D|NSMF_ENST00000541195.1_Missense_Mutation_p.A118D|NSMF_ENST00000339554.3_Missense_Mutation_p.A118D|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371472.2_Missense_Mutation_p.A319D	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	321					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)	p.A319D(1)									GTCCTCGAAGGCCTCGTCCAG	0.657																																						uc004cna.2																			1	Substitution - Missense(1)		lung(1)		0						c.(961-963)GCC>GAC		nasal embryonic LHRH factor isoform a							65.0	59.0	61.0					9																	140347593		2201	4295	6496	SO:0001583	missense	26012					nucleus|plasma membrane		g.chr9:140347593G>T		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.962C>A	9.37:g.140347593G>T	ENSP00000360530:p.Ala321Asp					C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.A118D|NELF_uc010nci.2_Missense_Mutation_p.A65D|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.A298D|NELF_uc004cmz.2_Missense_Mutation_p.A319D|NELF_uc004cnc.2_Missense_Mutation_p.A296D|NELF_uc004cnb.2_Missense_Mutation_p.A291D	p.A321D	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)	9	1194	-	all_cancers(76;0.0926)		321					Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.962C>A	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	G	9.879	1.201189	0.22121	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472;ENST00000541195;ENST00000371468	T;T;T;T;T;T;T;T;T	0.41400	1.1;1.1;1.1;1.08;1.08;1.08;1.0;1.1;1.03	5.3	3.15	0.36227	.	0.312660	0.34223	N	0.004148	T	0.26231	0.0640	N	0.00841	-1.15	0.41206	D	0.986403	B;B;B;B;B;D;P	0.89917	0.025;0.005;0.0;0.011;0.005;1.0;0.775	B;B;B;B;B;D;B	0.83275	0.019;0.009;0.005;0.013;0.01;0.996;0.356	T	0.18999	-1.0319	10	0.15066	T	0.55	-10.267	7.0322	0.24972	0.0:0.1334:0.3892:0.4774	.	298;118;72;296;291;321;319	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	D	118;321;319;298;298;296;291;319;118;54	ENSP00000342966:A118D;ENSP00000360530:A321D;ENSP00000265663:A319D;ENSP00000412007:A298D;ENSP00000376559:A298D;ENSP00000360529:A296D;ENSP00000360528:A291D;ENSP00000360527:A319D;ENSP00000444177:A118D	ENSP00000265663:A319D	A	-	2	0	NELF	139467414	0.137000	0.22531	0.971000	0.41717	0.931000	0.56810	1.115000	0.31209	0.601000	0.29879	0.455000	0.32223	GCC		PASS	0.657	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		4	34	4	34	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5789240	5789240	+	Silent	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:5789240C>T	ENST00000328090.5	+	15	4481	c.3856C>T	c.(3856-3858)Cta>Tta	p.L1286L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1286								p.L1286L(1)									TGACTTAGCTCTAACAATATC	0.418																																						uc001iij.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3856-3858)CTA>TTA		hypothetical protein LOC54906							104.0	109.0	107.0					10																	5789240		1866	4114	5980	SO:0001819	synonymous_variant	54906							g.chr10:5789240C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3856C>T	10.37:g.5789240C>T						C10orf18_uc001iik.2_Silent_p.L130L	p.L1286L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			15	4481	+			1286					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3856C>T	CCDS41485.1																																																																																				PASS	0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		26	124	26	124	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582261	55582261	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:55582261G>A	ENST00000320301.6	-	33	5619	c.5225C>T	c.(5224-5226)cCt>cTt	p.P1742L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1719L|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1702L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1739L|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1744L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1673L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1742					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P1742L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				aCAGGCAGAAGGAGAGATGTT	0.458										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5224-5226)CCT>CTT		protocadherin 15 isoform CD1-4 precursor							28.0	28.0	28.0					10																	55582261		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582261G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5225C>T	10.37:g.55582261G>A	ENSP00000322604:p.Pro1742Leu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1739L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1702L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1673L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1749L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1744L|PCDH15_uc010qia.1_Missense_Mutation_p.P1722L|PCDH15_uc010qib.1_Missense_Mutation_p.P1719L	p.P1742L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5620	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1742			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5225C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	6.963	0.547511	0.13312	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.55588	0.54;0.51;0.55;0.51;0.51;0.52	3.76	1.79	0.24919	.	.	.	.	.	T	0.33118	0.0852	N	0.19112	0.55	0.09310	N	1	P;P;P;P;P;P;P;P	0.41313	0.745;0.745;0.745;0.745;0.745;0.745;0.745;0.745	B;B;B;B;B;B;B;B	0.33295	0.161;0.161;0.161;0.161;0.161;0.161;0.161;0.161	T	0.08953	-1.0697	9	0.72032	D	0.01	.	9.8472	0.41034	0.0:0.0:0.6307:0.3693	.	1719;1742;1744;1749;1673;1702;1739;1742	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1702;1744;1719;1742;1739;1749;1673	ENSP00000378820:P1702L;ENSP00000354950:P1744L;ENSP00000378821:P1719L;ENSP00000322604:P1742L;ENSP00000378818:P1739L;ENSP00000412628:P1673L	ENSP00000322604:P1742L	P	-	2	0	PCDH15	55252267	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.060000	0.14342	0.230000	0.21059	0.655000	0.94253	CCT		PASS	0.458	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		3	17	3	17	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70451506	70451506	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:70451506A>G	ENST00000373644.4	+	12	6555	c.6346A>G	c.(6346-6348)Aat>Gat	p.N2116D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2116					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.N2116D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AACCCATGACAATGTTGTCAC	0.453																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(6346-6348)AAT>GAT		CXXC finger 6							126.0	129.0	128.0					10																	70451506		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451506A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6346A>G	10.37:g.70451506A>G	ENSP00000362748:p.Asn2116Asp						p.N2116D	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			12	6851	+			2116					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.6346A>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199908	0.79015	.	.	ENSG00000138336	ENST00000373644	T	0.07444	3.19	5.59	5.59	0.84812	.	0.716192	0.14702	N	0.303540	T	0.22781	0.0550	L	0.53249	1.67	0.29287	N	0.869651	D	0.62365	0.991	D	0.68192	0.956	T	0.04294	-1.0962	10	0.66056	D	0.02	.	10.9332	0.47230	0.8602:0.0:0.0:0.1398	.	2116	Q8NFU7	TET1_HUMAN	D	2116	ENSP00000362748:N2116D	ENSP00000362748:N2116D	N	+	1	0	TET1	70121512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.314000	0.51943	2.128000	0.65567	0.460000	0.39030	AAT		PASS	0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		20	64	20	64	---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71690217	71690217	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:71690217A>G	ENST00000398978.3	+	29	2051	c.1559A>G	c.(1558-1560)gAt>gGt	p.D520G	COL13A1_ENST00000356340.3_Missense_Mutation_p.D520G|COL13A1_ENST00000520267.1_Missense_Mutation_p.D463G|COL13A1_ENST00000398972.3_Missense_Mutation_p.D520G|COL13A1_ENST00000398966.3_Missense_Mutation_p.D498G|COL13A1_ENST00000354547.3_Missense_Mutation_p.D498G|COL13A1_ENST00000520133.1_Missense_Mutation_p.D469G|COL13A1_ENST00000398964.3_Missense_Mutation_p.D491G|COL13A1_ENST00000517713.1_Missense_Mutation_p.D498G|COL13A1_ENST00000398974.3_Missense_Mutation_p.D508G|COL13A1_ENST00000398969.3_Missense_Mutation_p.D463G|COL13A1_ENST00000398971.3_Missense_Mutation_p.D520G|COL13A1_ENST00000398973.3_Missense_Mutation_p.D520G|COL13A1_ENST00000398968.3_Missense_Mutation_p.D501G|COL13A1_ENST00000357811.3_Missense_Mutation_p.D498G|COL13A1_ENST00000522165.1_Missense_Mutation_p.D501G	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.D503G(1)|p.D520G(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCAGGAAAGGATGGACCTCCA	0.567																																						uc001jpr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1558-1560)GAT>GGT		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						40.0	47.0	45.0					10																	71690217		1887	4108	5995	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71690217A>G	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1559A>G	10.37:g.71690217A>G	ENSP00000381949:p.Asp520Gly					COL13A1_uc001jqj.1_Missense_Mutation_p.D520G|COL13A1_uc001jps.1_Missense_Mutation_p.D491G|COL13A1_uc001jpt.1_Missense_Mutation_p.D479G|COL13A1_uc001jpu.1_Missense_Mutation_p.D501G|COL13A1_uc001jpv.1_Missense_Mutation_p.D520G|COL13A1_uc001jpx.1_Missense_Mutation_p.D498G|COL13A1_uc001jpw.1_Missense_Mutation_p.D467G|COL13A1_uc001jpy.1_Missense_Mutation_p.D458G|COL13A1_uc001jpz.1_Missense_Mutation_p.D463G|COL13A1_uc001jqa.1_Missense_Mutation_p.D460G|COL13A1_uc001jqc.1_Missense_Mutation_p.D520G|COL13A1_uc001jqb.1_Missense_Mutation_p.D469G|COL13A1_uc001jql.2_Missense_Mutation_p.D520G|COL13A1_uc001jqd.1_Missense_Mutation_p.D508G|COL13A1_uc001jqe.1_Missense_Mutation_p.D503G|COL13A1_uc001jqf.1_Missense_Mutation_p.D501G|COL13A1_uc001jqg.1_Missense_Mutation_p.D498G|COL13A1_uc001jqh.1_Missense_Mutation_p.D520G|COL13A1_uc001jqi.1_Missense_Mutation_p.D520G|COL13A1_uc010qjf.1_Missense_Mutation_p.D310G	p.D520G	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			28	2095	+			520			Extracellular (Potential).|Triple-helical region 3 (COL3).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1559A>G	CCDS44419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.597|9.597	1.127774|1.127774	0.20959|0.20959	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133|ENST00000398975	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.94138|.	-3.22;-3.19;-3.22;-3.22;-3.22;-3.19;-3.22;-3.36;-3.36;-3.22;-3.22;-3.22;-3.19;-3.17;-3.22;-3.25|.	4.75|4.75	2.55|2.55	0.30701|0.30701	.|.	0.933357|.	0.08982|.	N|.	0.865679|.	T|T	0.55146|0.55146	0.1902|0.1902	M|M	0.79123|0.79123	2.44|2.44	0.30505|0.30505	N|N	0.769975|0.769975	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.30146|.	0.005;0.012;0.013;0.013;0.109;0.017;0.012;0.041;0.012;0.017;0.017;0.013;0.013;0.017;0.026;0.004;0.073;0.27;0.01|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.34931|.	0.025;0.055;0.022;0.022;0.111;0.038;0.055;0.111;0.055;0.038;0.038;0.022;0.022;0.038;0.068;0.022;0.053;0.192;0.033|.	T|T	0.56135|0.56135	-0.8029|-0.8029	10|5	0.23891|.	T|.	0.37|.	12.4141|12.4141	6.885|6.885	0.24195|0.24195	0.6666:0.21:0.0:0.1235|0.6666:0.21:0.0:0.1235	.|.	463;520;520;520;520;498;501;520;508;520;469;498;498;529;520;501;498;491;520|.	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	G|V	508;520;501;498;491;463;520;520;520;520;498;498;463;498;501;469|65	ENSP00000381946:D508G;ENSP00000381943:D520G;ENSP00000381940:D501G;ENSP00000381938:D498G;ENSP00000381936:D491G;ENSP00000381941:D463G;ENSP00000348695:D520G;ENSP00000381944:D520G;ENSP00000381945:D520G;ENSP00000381949:D520G;ENSP00000346553:D498G;ENSP00000350463:D498G;ENSP00000428057:D463G;ENSP00000430061:D498G;ENSP00000428342:D501G;ENSP00000430173:D469G|.	ENSP00000346553:D498G|.	D|M	+|+	2|1	0|0	COL13A1|COL13A1	71360223|71360223	1.000000|1.000000	0.71417|0.71417	0.461000|0.461000	0.27105|0.27105	0.708000|0.708000	0.40852|0.40852	2.477000|2.477000	0.45180|0.45180	0.422000|0.422000	0.26005|0.26005	0.459000|0.459000	0.35465|0.35465	GAT|ATG		PASS	0.567	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		5	9	5	9	---	---	---	---
LRRC20	55222	broad.mit.edu	37	10	72100443	72100443	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:72100443T>A	ENST00000355790.4	-	3	575	c.98A>T	c.(97-99)aAg>aTg	p.K33M	LRRC20_ENST00000373224.1_Missense_Mutation_p.K33M|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000395011.1_Intron|LRRC20_ENST00000395010.1_Missense_Mutation_p.K33M	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	33								p.K33M(1)		endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GGAGACCAGCTTGCACTCGGC	0.547																																						uc001jqx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)AAG>ATG		leucine rich repeat containing 20 isoform 1							175.0	142.0	153.0					10																	72100443		2203	4300	6503	SO:0001583	missense	55222							g.chr10:72100443T>A	BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.98A>T	10.37:g.72100443T>A	ENSP00000348043:p.Lys33Met					LRRC20_uc001jqy.1_Missense_Mutation_p.K33M|LRRC20_uc001jqz.1_Intron	p.K33M	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN			3	320	-			33					Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	37	c.98A>T	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865359	0.71949	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395010;ENST00000357631;ENST00000446961	T;T;T;T;T	0.54675	0.57;0.57;0.56;0.56;0.57	5.74	5.74	0.90152	.	0.298550	0.39759	N	0.001263	T	0.63498	0.2516	L	0.47716	1.5	0.45161	D	0.998179	D;D	0.76494	0.999;0.979	D;P	0.63192	0.912;0.635	T	0.65944	-0.6045	10	0.66056	D	0.02	-41.578	13.4153	0.60966	0.0:0.0:0.0:1.0	.	33;33	Q8TCA0-3;Q8TCA0	.;LRC20_HUMAN	M	33	ENSP00000362321:K33M;ENSP00000348043:K33M;ENSP00000378457:K33M;ENSP00000350255:K33M;ENSP00000413745:K33M	ENSP00000348043:K33M	K	-	2	0	LRRC20	71770449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.853000	0.55941	2.192000	0.70111	0.533000	0.62120	AAG		PASS	0.547	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048510.1	NM_018239		8	36	8	36	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85993948	85993948	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:85993948C>A	ENST00000372105.3	-	3	797	c.776G>T	c.(775-777)gGa>gTa	p.G259V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	259						integral component of endoplasmic reticulum membrane (GO:0030176)		p.G259V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCTGGCCACTCCTGGATGGAG	0.617																																						uc001kcz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)GGA>GTA		retina specific protein PAL							76.0	75.0	75.0					10																	85993948		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85993948C>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.776G>T	10.37:g.85993948C>A	ENSP00000361177:p.Gly259Val						p.G259V	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			3	798	-			259			Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.776G>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964722	0.53507	.	.	ENSG00000148602	ENST00000372105	T	0.27104	1.69	5.91	4.99	0.66335	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.225743	0.47093	D	0.000248	T	0.31949	0.0813	L	0.49126	1.545	0.58432	D	0.999998	P	0.47191	0.891	P	0.49999	0.628	T	0.00668	-1.1618	10	0.26408	T	0.33	.	12.7457	0.57280	0.0:0.6636:0.3364:0.0	.	259	Q9P2V4	LRIT1_HUMAN	V	259	ENSP00000361177:G259V	ENSP00000361177:G259V	G	-	2	0	LRIT1	85983928	1.000000	0.71417	0.150000	0.22450	0.112000	0.19704	6.864000	0.75494	2.793000	0.96121	0.655000	0.94253	GGA		PASS	0.617	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		19	62	19	62	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97098986	97098986	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:97098986C>A	ENST00000361941.3	-	27	2795	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	SORBS1_ENST00000371246.2_Silent_p.V945V|SORBS1_ENST00000371227.4_Silent_p.V877V|SORBS1_ENST00000393949.1_Silent_p.V893V|SORBS1_ENST00000353505.5_Silent_p.V774V|SORBS1_ENST00000371245.3_Silent_p.V774V|SORBS1_ENST00000347291.4_Silent_p.V735V|SORBS1_ENST00000371239.1_Silent_p.V700V|SORBS1_ENST00000371241.1_Silent_p.V573V|SORBS1_ENST00000277982.5_Silent_p.V945V|SORBS1_ENST00000371247.2_Silent_p.V923V|SORBS1_ENST00000354106.3_Silent_p.V893V|SORBS1_ENST00000474353.2_5'Flank|SORBS1_ENST00000371249.2_Silent_p.V705V|SORBS1_ENST00000306402.6_Silent_p.V670V|SORBS1_ENST00000607232.1_Silent_p.V1183V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.V774V(1)|p.V923V(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TGATCACATCCACGTAGGTGA	0.562																																						uc001kkp.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(2767-2769)GTG>GTT		sorbin and SH3 domain containing 1 isoform 3							233.0	208.0	217.0					10																	97098986		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97098986C>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2769G>T	10.37:g.97098986C>A						SORBS1_uc001kkk.2_Silent_p.V417V|SORBS1_uc001kkl.2_Silent_p.V525V|SORBS1_uc001kkn.2_Silent_p.V688V|SORBS1_uc001kkm.2_Silent_p.V723V|SORBS1_uc001kko.2_Silent_p.V945V|SORBS1_uc001kkq.2_Silent_p.V774V|SORBS1_uc001kkr.2_Silent_p.V629V|SORBS1_uc001kks.2_Silent_p.V573V|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.V670V|SORBS1_uc001kkv.2_Silent_p.V705V|SORBS1_uc001kkw.2_Silent_p.V877V|SORBS1_uc010qoe.1_Silent_p.V638V	p.V923V	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	27	2814	-		Colorectal(252;0.0429)	923			SH3 2.			Silent	SNP	ENST00000361941.3	37	c.2769G>T	CCDS31255.1																																																																																				PASS	0.562	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			5	68	5	68	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115365986	115365986	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:115365986C>G	ENST00000359988.3	-	33	4002	c.3758G>C	c.(3757-3759)gGt>gCt	p.G1253A	NRAP_ENST00000369358.4_Missense_Mutation_p.G1261A|NRAP_ENST00000369360.3_Missense_Mutation_p.G1226A|NRAP_ENST00000360478.3_Missense_Mutation_p.G1218A	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.G1253A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCGGGCAGACCCAGGGTCAT	0.438																																						uc001laj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(3757-3759)GGT>GCT		nebulin-related anchoring protein isoform S							156.0	150.0	152.0					10																	115365986		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115365986C>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3758G>C	10.37:g.115365986C>G	ENSP00000353078:p.Gly1253Ala					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.G1218A|NRAP_uc001lal.3_Missense_Mutation_p.G1253A	p.G1253A	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	33	3922	-		Colorectal(252;0.0233)|Breast(234;0.188)	1253			Nebulin 33.			Missense_Mutation	SNP	ENST00000359988.3	37	c.3758G>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829691	0.71258	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16743	2.53;2.53;2.41;2.32	5.64	5.64	0.86602	.	0.054266	0.85682	D	0.000000	T	0.25195	0.0612	L	0.51422	1.61	0.41235	D	0.9866	B;B;B	0.33413	0.288;0.411;0.288	B;B;B	0.42112	0.208;0.376;0.208	T	0.01863	-1.1258	10	0.25751	T	0.34	.	17.896	0.88888	0.0:1.0:0.0:0.0	.	1253;1218;1253	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	A	1261;1226;1253;1218	ENSP00000358365:G1261A;ENSP00000358367:G1226A;ENSP00000353078:G1253A;ENSP00000353666:G1218A	ENSP00000353078:G1253A	G	-	2	0	NRAP	115355976	0.986000	0.35501	0.994000	0.49952	0.858000	0.48976	2.577000	0.46042	2.664000	0.90586	0.655000	0.94253	GGT		PASS	0.438	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		9	33	9	33	---	---	---	---
CASP7	840	broad.mit.edu	37	10	115486137	115486137	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:115486137C>A	ENST00000345633.4	+	7	1010	c.626C>A	c.(625-627)cCt>cAt	p.P209H	CASP7_ENST00000452490.2_Missense_Mutation_p.P184H|CASP7_ENST00000369331.4_Missense_Mutation_p.L198I|CASP7_ENST00000369321.2_Missense_Mutation_p.P242H|CASP7_ENST00000369318.3_Missense_Mutation_p.P209H|CASP7_ENST00000369315.1_Missense_Mutation_p.P209H	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	209					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.P242H(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GATGCTAATCCTCGATACAAG	0.498																																						uc001lan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(625-627)CCT>CAT		caspase 7 isoform alpha							225.0	155.0	179.0					10																	115486137		2203	4300	6503	SO:0001583	missense	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115486137C>A	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.626C>A	10.37:g.115486137C>A	ENSP00000298701:p.Pro209His					CASP7_uc001lam.2_Missense_Mutation_p.L198I|CASP7_uc001lao.2_Missense_Mutation_p.P242H|CASP7_uc001lap.2_Missense_Mutation_p.P209H|CASP7_uc001laq.2_Missense_Mutation_p.P209H|CASP7_uc010qsa.1_Missense_Mutation_p.P294H|CASP7_uc010qsb.1_Missense_Mutation_p.P184H	p.P209H	NM_033339	NP_203125	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	6	800	+		Colorectal(252;0.0946)|Breast(234;0.188)	209					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	c.626C>A	CCDS7581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.585235|4.585235	0.86748|0.86748	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000429617;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369315;ENST00000452490	T|T;T;T;T;T;T	0.10288|0.20598	2.89|2.06;2.06;2.06;2.06;2.06;2.06	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	.|0.048221	.|0.85682	.|D	.|0.000000	T|T	0.47469|0.47469	0.1447|0.1447	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|D;B;D;D	0.34757|0.89917	0.467|0.999;0.352;1.0;1.0	B|D;B;D;D	0.35353|0.76071	0.201|0.98;0.123;0.984;0.987	T|T	0.34650|0.34650	-0.9820|-0.9820	8|9	0.19590|0.39692	T|T	0.45|0.17	.|.	18.9423|18.9423	0.92608|0.92608	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	198|184;217;242;209	P55210-2|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	I|H	198|209;242;209;209;170;209;184	ENSP00000358337:L198I|ENSP00000400094:P209H;ENSP00000358327:P242H;ENSP00000298701:P209H;ENSP00000358324:P209H;ENSP00000358321:P209H;ENSP00000398107:P184H	ENSP00000358337:L198I|ENSP00000298701:P209H	L|P	+|+	1|2	0|0	CASP7|CASP7	115476127|115476127	0.997000|0.997000	0.39634|0.39634	0.601000|0.601000	0.28877|0.28877	0.863000|0.863000	0.49368|0.49368	3.800000|3.800000	0.55537|0.55537	2.470000|2.470000	0.83445|0.83445	0.563000|0.563000	0.77884|0.77884	CTC|CCT		PASS	0.498	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		5	66	5	66	---	---	---	---
KCNK18	338567	broad.mit.edu	37	10	118960727	118960727	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:118960727G>T	ENST00000334549.1	+	2	281	c.281G>T	c.(280-282)tGg>tTg	p.W94L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	94					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.W94L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAGCCTCAGTGGTTTAACAGG	0.527																																						uc010qsr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(280-282)TGG>TTG		potassium channel, subfamily K, member 18							180.0	156.0	164.0					10																	118960727		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118960727G>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.281G>T	10.37:g.118960727G>T	ENSP00000334650:p.Trp94Leu						p.W94L	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	281	+		Colorectal(252;0.19)	94					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.281G>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808457	0.70797	.	.	ENSG00000186795	ENST00000334549	T	0.14391	2.51	4.34	4.34	0.51931	.	0.060847	0.64402	D	0.000001	T	0.13841	0.0335	L	0.48362	1.52	0.44635	D	0.997615	P	0.39624	0.681	B	0.40741	0.339	T	0.04621	-1.0938	10	0.10111	T	0.7	.	14.674	0.68964	0.0:0.0:1.0:0.0	.	94	Q7Z418	KCNKI_HUMAN	L	94	ENSP00000334650:W94L	ENSP00000334650:W94L	W	+	2	0	KCNK18	118950717	1.000000	0.71417	0.908000	0.35775	0.153000	0.21895	5.994000	0.70623	2.691000	0.91804	0.655000	0.94253	TGG		PASS	0.527	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		41	105	41	105	---	---	---	---
CUZD1	50624	broad.mit.edu	37	10	124597003	124597003	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:124597003C>G	ENST00000368904.1	-	6	1465	c.516G>C	c.(514-516)aaG>aaC	p.K172N	CUZD1_ENST00000545804.1_Missense_Mutation_p.K172N|CUZD1_ENST00000392790.1_Missense_Mutation_p.K172N					CUB and zona pellucida-like domains 1									p.K172N(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGGATGCGGCTTTGGGTAAT	0.443																																						uc001lgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(514-516)AAG>AAC		CUB and zona pellucida-like domains 1 precursor							119.0	121.0	120.0					10																	124597003		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124597003C>G	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.516G>C	10.37:g.124597003C>G	ENSP00000357900:p.Lys172Asn					CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.K172N|CUZD1_uc010qtz.1_Missense_Mutation_p.K172N	p.K172N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	4	848	-		all_neural(114;0.169)|Glioma(114;0.222)	172			Extracellular (Potential).|CUB 2.			Missense_Mutation	SNP	ENST00000368904.1	37	c.516G>C	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	1.501	-0.552172	0.03996	.	.	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.30981	1.51;1.51;1.51	4.57	-3.01	0.05463	CUB (5);	1.168610	0.05916	N	0.632601	T	0.11024	0.0269	N	0.04132	-0.27	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.23261	-1.0193	10	0.14252	T	0.57	-0.0644	2.761	0.05306	0.3037:0.4197:0.0934:0.1832	.	172	Q86UP6	CUZD1_HUMAN	N	172	ENSP00000357900:K172N;ENSP00000441590:K172N;ENSP00000376540:K172N	ENSP00000357900:K172N	K	-	3	2	CUZD1	124586993	0.000000	0.05858	0.016000	0.15963	0.810000	0.45777	-2.561000	0.00921	-0.606000	0.05746	-1.357000	0.01221	AAG		PASS	0.443	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		24	59	24	59	---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124758038	124758038	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr10:124758038C>T	ENST00000368886.5	-	3	424	c.104G>A	c.(103-105)gGg>gAg	p.G35E	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	35					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.G35E(1)		endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TTCTTTGTCCCCACTAACTGA	0.408																																						uc001lha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)GGG>GAG		zinc finger protein, subfamily 1A, 5							113.0	109.0	110.0					10																	124758038		1890	4111	6001	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124758038C>T	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.104G>A	10.37:g.124758038C>T	ENSP00000357881:p.Gly35Glu						p.G35E	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	3	403	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	35					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.104G>A	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879855	0.72294	.	.	ENSG00000095574	ENST00000368886	T	0.05382	3.45	6.17	6.17	0.99709	.	0.047040	0.85682	D	0.000000	T	0.07279	0.0184	N	0.24115	0.695	0.58432	D	0.999998	P	0.37423	0.594	B	0.34722	0.188	T	0.24440	-1.0160	10	0.66056	D	0.02	-6.4207	20.8794	0.99867	0.0:1.0:0.0:0.0	.	35	Q9H5V7	IKZF5_HUMAN	E	35	ENSP00000357881:G35E	ENSP00000357881:G35E	G	-	2	0	IKZF5	124748028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.411000	0.80078	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.408	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		5	45	5	45	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1093582	1093582	+	Missense_Mutation	SNP	G	G	C	rs55641679	byFrequency	TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:1093582G>C	ENST00000441003.2	+	30	5428	c.5401G>C	c.(5401-5403)Gca>Cca	p.A1801P	MUC2_ENST00000359061.5_Missense_Mutation_p.A1757P|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.A89P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.A1801P(1)|p.A1757P(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tacGGTGACCGCAACCCCAAC	0.592																																						uc001lsx.1																			2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(12487-12489)GCA>CCA		mucin 2 precursor	Pranlukast(DB01411)						94.0	127.0	115.0					11																	1093582		2189	4261	6450	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093582G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5401G>C	11.37:g.1093582G>C	ENSP00000415183:p.Ala1801Pro						p.A4163P	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	12514	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4163	P -> A (in Ref. 4).				Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.12487G>C		.	.	.	.	.	.	.	.	.	.	C	6.673	0.492767	0.12702	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.06933	3.24;3.24;3.64	1.82	-3.63	0.04529	.	0.216900	0.19134	U	0.121877	T	0.04003	0.0112	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	9	0.29301	T	0.29	.	1.8833	0.03232	0.48:0.2674:0.1237:0.1289	rs55641679;rs61618459	1801	E7EUV1	.	P	1801;1757;89	ENSP00000415183:A1801P;ENSP00000351956:A1757P;ENSP00000331373:A89P	ENSP00000331373:A89P	A	+	1	0	MUC2	1083582	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.453000	0.02383	-3.045000	0.00262	-1.042000	0.02369	GCA		PASS	0.592	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	22	4	22	---	---	---	---
MUC5AC	4586	broad.mit.edu	37	11	1157747	1157747	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:1157747G>T	ENST00000356191.2	+	13	805	c.805G>T	c.(805-807)Ggc>Tgc	p.G269C				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	272	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.G272C(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCTCCTGCACGGCCAGCTGTT	0.637																																						uc009ycr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(814-816)GGC>TGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							68.0	66.0	66.0					11																	1157747		874	1990	2864	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1157747G>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.805G>T	11.37:g.1157747G>T	ENSP00000348519:p.Gly269Cys						p.G272C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	9	940	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	268			VWFD 1.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.814G>T		.	.	.	.	.	.	.	.	.	.	g	12.66	2.006020	0.35415	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.76968	-1.06;-1.06	3.19	-3.95	0.04118	.	.	.	.	.	D	0.84056	0.5388	M	0.73217	2.22	.	.	.	D	0.89917	1.0	D	0.77004	0.989	D	0.84506	0.0619	8	0.87932	D	0	.	11.3599	0.49638	0.4894:0.0:0.5106:0.0	.	272	A7Y9J9	.	C	272;269	ENSP00000435591:G272C;ENSP00000348519:G269C	ENSP00000348519:G269C	G	+	1	0	MUC5AC	1147747	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.579000	0.02123	-0.690000	0.05142	-0.513000	0.04457	GGC		PASS	0.637	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		9	18	9	18	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1271174	1271174	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:1271174C>G	ENST00000529681.1	+	31	13122	c.13064C>G	c.(13063-13065)tCc>tGc	p.S4355C	MUC5B_ENST00000447027.1_Missense_Mutation_p.S4358C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4355	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S4310C(1)|p.S4355C(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCCTCCTCCACTCCGGAG	0.657																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(14482-14484)TCC>TGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							99.0	120.0	112.0					11																	1271174		2146	4228	6374	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271174C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13064C>G	11.37:g.1271174C>G	ENSP00000436812:p.Ser4355Cys					MUC5B_uc001ltb.2_Missense_Mutation_p.S4358C	p.S4828C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14609	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4355			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14483C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	2.625	-0.287630	0.05605	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.22336	1.96;2.16	2.44	0.236	0.15471	.	.	.	.	.	T	0.16471	0.0396	L	0.59436	1.845	0.09310	N	1	P;P	0.50156	0.932;0.932	B;B	0.37198	0.243;0.243	T	0.15263	-1.0443	9	0.87932	D	0	.	4.8987	0.13764	0.0:0.6336:0.0:0.3664	.	4828;4358	A7Y9J9;E9PBJ0	.;.	C	4355;4358;4299;4205;134	ENSP00000436812:S4355C;ENSP00000415793:S4358C	ENSP00000343037:S4299C	S	+	2	0	MUC5B	1227750	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.699000	0.25586	-0.297000	0.08934	0.184000	0.17185	TCC		PASS	0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		26	51	26	51	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4408217	4408217	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:4408217C>A	ENST00000254436.7	-	5	851	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L	TRIM21_ENST00000543625.1_Intron	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	247					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V247L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACAATTATCACCTCCTGAGGA	0.458																																						uc001lyy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(739-741)GTG>TTG		tripartite motif protein 21							72.0	67.0	68.0					11																	4408217		1934	4147	6081	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4408217C>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.739G>T	11.37:g.4408217C>A	ENSP00000254436:p.Val247Leu						p.V247L	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	5	852	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	247					Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.739G>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327311	0.41197	.	.	ENSG00000132109	ENST00000254436	T	0.04809	3.55	4.04	3.12	0.35913	.	.	.	.	.	T	0.05731	0.0150	L	0.49640	1.575	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17198	-1.0377	9	0.66056	D	0.02	.	7.5575	0.27833	0.0:0.8849:0.0:0.1151	.	247	P19474	RO52_HUMAN	L	247	ENSP00000254436:V247L	ENSP00000254436:V247L	V	-	1	0	TRIM21	4364793	0.701000	0.27806	0.977000	0.42913	0.972000	0.66771	0.815000	0.27253	1.280000	0.44463	0.655000	0.94253	GTG		PASS	0.458	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		4	8	4	8	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6190909	6190909	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:6190909G>T	ENST00000530810.1	-	1	729	c.648C>A	c.(646-648)atC>atA	p.I216I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I216I(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGACACAGCGATGAGGATAA	0.512																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(646-648)ATC>ATA		olfactory receptor, family 52, subfamily B,							60.0	60.0	60.0					11																	6190909		2089	4222	6311	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190909G>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.648C>A	11.37:g.6190909G>T							p.I216I	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	648	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	216			Helical; Name=5; (Potential).		Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.648C>A	CCDS53598.1																																																																																				PASS	0.512	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		20	37	20	37	---	---	---	---
CTR9	9646	broad.mit.edu	37	11	10776627	10776627	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:10776627G>T	ENST00000361367.2	+	3	693	c.267G>T	c.(265-267)ttG>ttT	p.L89F		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	89					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.L89F(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGATACATTGGCAGCGTATT	0.378																																						uc001mja.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(265-267)TTG>TTT		SH2 domain binding protein 1							120.0	119.0	119.0					11																	10776627		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10776627G>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.267G>T	11.37:g.10776627G>T	ENSP00000355013:p.Leu89Phe						p.L89F	NM_014633	NP_055448	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	3	416	+			89					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.267G>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717419	0.68844	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T	0.79749	-1.3	5.78	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.89287	3.02	0.80722	D	1	D	0.64830	0.994	P	0.59546	0.859	D	0.88764	0.3259	10	0.52906	T	0.07	-10.183	10.158	0.42833	0.1822:0.0:0.8178:0.0	.	89	Q6PD62	CTR9_HUMAN	F	89;76	ENSP00000355013:L89F	ENSP00000355013:L89F	L	+	3	2	CTR9	10733203	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	0.864000	0.27926	1.193000	0.43086	0.563000	0.77884	TTG		PASS	0.378	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		7	153	7	153	---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18303747	18303747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:18303747C>A	ENST00000349215.3	-	22	3356	c.3079G>T	c.(3079-3081)Gag>Tag	p.E1027*	HPS5_ENST00000396253.3_Nonsense_Mutation_p.E913*|HPS5_ENST00000537258.1_Nonsense_Mutation_p.E134*|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Nonsense_Mutation_p.E913*	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1027					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.E1027*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTCCATTCCTCCACGGTCTCT	0.517									Hermansky-Pudlak syndrome																													uc001mod.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3079-3081)GAG>TAG		Hermansky-Pudlak syndrome 5 isoform a							76.0	81.0	80.0					11																	18303747		2199	4293	6492	SO:0001587	stop_gained	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18303747C>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3079G>T	11.37:g.18303747C>A	ENSP00000265967:p.Glu1027*					HPS5_uc001moe.1_Nonsense_Mutation_p.E913*|HPS5_uc001mof.1_Nonsense_Mutation_p.E913*	p.E1027*	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			22	3357	-			1027					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Nonsense_Mutation	SNP	ENST00000349215.3	37	c.3079G>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	42	9.505547	0.99190	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	.	.	.	5.02	5.02	0.67125	.	0.253573	0.41823	D	0.000802	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5376	0.91015	0.0:1.0:0.0:0.0	.	.	.	.	X	913;913;1027;134	.	ENSP00000265967:E1027X	E	-	1	0	HPS5	18260323	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.365000	0.66116	2.595000	0.87683	0.650000	0.86243	GAG		PASS	0.517	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		5	53	5	53	---	---	---	---
COMMD9	29099	broad.mit.edu	37	11	36296266	36296266	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:36296266C>A	ENST00000263401.5	-	6	529	c.513G>T	c.(511-513)gtG>gtT	p.V171V	COMMD9_ENST00000533308.1_5'Flank|LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000452374.2_Silent_p.V129V|COMMD9_ENST00000532705.1_Nonsense_Mutation_p.G160*	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	171	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.V171V(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TGCTCAGCTCCACGGTGACAG	0.542																																						uc001mwn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(511-513)GTG>GTT		COMM domain containing 9 isoform 1							165.0	135.0	145.0					11																	36296266		2202	4298	6500	SO:0001819	synonymous_variant	29099							g.chr11:36296266C>A	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.513G>T	11.37:g.36296266C>A						COMMD9_uc009ykj.2_Silent_p.V129V|COMMD9_uc009yki.1_5'Flank	p.V171V	NM_014186	NP_054905	Q9P000	COMD9_HUMAN			6	550	-	all_lung(20;0.211)	all_hematologic(20;0.107)	171			COMM.		E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	ENST00000263401.5	37	c.513G>T	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	C	36	5.914633	0.97099	.	.	ENSG00000110442	ENST00000532705	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.116	12.6048	0.56516	0.0:0.9205:0.0:0.0795	.	.	.	.	X	160	.	ENSP00000435599:G160X	G	-	1	0	COMMD9	36252842	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	3.906000	0.56340	2.656000	0.90262	0.655000	0.94253	GGA		PASS	0.542	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186		5	97	5	97	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46900684	46900684	+	Silent	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:46900684C>T	ENST00000378623.1	-	21	3239	c.2997G>A	c.(2995-2997)cgG>cgA	p.R999R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	999					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R999R(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACCTGGGGGCCGGCGGCGGT	0.607																																						uc001ndn.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2995-2997)CGG>CGA		low density lipoprotein receptor-related protein							118.0	136.0	130.0					11																	46900684		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46900684C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2997G>A	11.37:g.46900684C>T							p.R999R	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	21	3143	-			999			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.2997G>A	CCDS31478.1																																																																																				PASS	0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		28	95	28	95	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974260	49974260	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:49974260A>T	ENST00000555099.1	+	1	318	c.286A>T	c.(286-288)Atg>Ttg	p.M96L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M96L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CAATGGATGTATGACTCAAGT	0.413																																						uc010rhz.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(286-288)ATG>TTG		olfactory receptor, family 4, subfamily C,							135.0	133.0	134.0					11																	49974260		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974260A>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.286A>T	11.37:g.49974260A>T	ENSP00000452277:p.Met96Leu						p.M96L	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	286	+			96			Extracellular (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.286A>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	2.607	-0.291670	0.05568	.	.	ENSG00000258817	ENST00000555099	T	0.00433	7.43	2.95	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	T	0.00178	0.0005	N	0.10733	0.035	0.21256	N	0.999745	B	0.16396	0.017	B	0.21151	0.033	T	0.34900	-0.9810	9	.	.	.	.	7.2077	0.25917	0.7762:0.2238:0.0:0.0	.	96	Q8NGP0	OR4CD_HUMAN	L	96	ENSP00000452277:M96L	.	M	+	1	0	OR4C13	49930836	0.000000	0.05858	0.316000	0.25252	0.063000	0.16089	-0.232000	0.09055	1.346000	0.45694	0.164000	0.16699	ATG		PASS	0.413	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		25	49	25	49	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135552	55135552	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:55135552G>A	ENST00000314706.3	+	1	193	c.193G>A	c.(193-195)Gtg>Atg	p.V65M		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V65M(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AATCTACATGGTGACGATAAT	0.418																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(193-195)GTG>ATG		olfactory receptor, family 4, subfamily A,							96.0	88.0	91.0					11																	55135552		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135552G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.193G>A	11.37:g.55135552G>A	ENSP00000325065:p.Val65Met						p.V65M	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	193	+			65			Helical; Name=1; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.193G>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	g	11.55	1.673326	0.29693	.	.	ENSG00000181958	ENST00000314706	T	0.00601	6.29	3.48	1.3	0.21679	.	0.158766	0.28859	N	0.013918	T	0.00412	0.0013	N	0.12611	0.24	0.09310	N	1	P	0.46912	0.886	B	0.43194	0.411	T	0.55786	-0.8086	10	0.49607	T	0.09	.	3.4041	0.07335	0.1384:0.0:0.408:0.4536	.	65	Q8NGL6	O4A15_HUMAN	M	65	ENSP00000325065:V65M	ENSP00000325065:V65M	V	+	1	0	OR4A15	54892128	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-1.451000	0.02387	0.657000	0.30906	-0.518000	0.04402	GTG		PASS	0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		8	36	8	36	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136373	55136373	+	Silent	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:55136373G>A	ENST00000314706.3	+	1	1014	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	338						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G338G(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCTTAGCTGGGAAATGGCTGT	0.368																																						uc010rif.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1012-1014)GGG>GGA		olfactory receptor, family 4, subfamily A,							77.0	78.0	77.0					11																	55136373		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136373G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.1014G>A	11.37:g.55136373G>A							p.G338G	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	1014	+			338			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.1014G>A	CCDS31500.1																																																																																				PASS	0.368	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		10	45	10	45	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587161	55587161	+	Nonsense_Mutation	SNP	C	C	A	rs201869603		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:55587161C>A	ENST00000333976.4	+	1	76	c.56C>A	c.(55-57)tCa>tAa	p.S19*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S19*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTGGGCTTCTCAGATTACCCA	0.428																																						uc010rin.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(55-57)TCA>TAA		olfactory receptor, family 5, subfamily D,							113.0	106.0	109.0					11																	55587161		2200	4296	6496	SO:0001587	stop_gained	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587161C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.56C>A	11.37:g.55587161C>A	ENSP00000335025:p.Ser19*						p.S19*	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	56	+		all_epithelial(135;0.208)	19			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Nonsense_Mutation	SNP	ENST00000333976.4	37	c.56C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.688244	0.88639	.	.	ENSG00000186119	ENST00000333976	.	.	.	5.18	4.25	0.50352	.	0.000000	0.31847	N	0.006972	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-9.3149	12.3825	0.55315	0.0:0.9171:0.0:0.0829	.	.	.	.	X	19	.	ENSP00000335025:S19X	S	+	2	0	OR5D18	55343737	0.000000	0.05858	0.997000	0.53966	0.994000	0.84299	0.159000	0.16442	2.626000	0.88956	0.632000	0.83419	TCA		PASS	0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		21	27	21	27	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890170	55890170	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:55890170G>T	ENST00000313472.3	+	1	322	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G108C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTCTTCTTGGGTACTGCTGA	0.453																																						uc001nii.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(322-324)GGT>TGT		olfactory receptor, family 8, subfamily H,							299.0	288.0	292.0					11																	55890170		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890170G>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.322G>T	11.37:g.55890170G>T	ENSP00000323928:p.Gly108Cys						p.G108C	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	322	+	Esophageal squamous(21;0.00693)		108			Helical; Name=3; (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.322G>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843588	0.32606	.	.	ENSG00000181761	ENST00000313472	T	0.01369	4.97	3.44	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.385414	0.22434	N	0.060109	T	0.05547	0.0146	M	0.86953	2.85	0.09310	N	1	D	0.60575	0.988	P	0.55161	0.77	T	0.14227	-1.0480	10	0.62326	D	0.03	.	6.6373	0.22889	0.0906:0.0:0.5969:0.3125	.	108	Q8N146	OR8H3_HUMAN	C	108	ENSP00000323928:G108C	ENSP00000323928:G108C	G	+	1	0	OR8H3	55646746	0.000000	0.05858	0.003000	0.11579	0.559000	0.35586	-0.052000	0.11865	0.525000	0.28522	0.173000	0.16961	GGT		PASS	0.453	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		9	238	9	238	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890505	55890505	+	Silent	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:55890505G>A	ENST00000313472.3	+	1	657	c.657G>A	c.(655-657)gtG>gtA	p.V219V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V219V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CATCCTATGTGTCCATTCTCT	0.438																																						uc001nii.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(655-657)GTG>GTA		olfactory receptor, family 8, subfamily H,							167.0	154.0	158.0					11																	55890505		2201	4293	6494	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890505G>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.657G>A	11.37:g.55890505G>A							p.V219V	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	657	+	Esophageal squamous(21;0.00693)		219			Cytoplasmic (Potential).		Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.657G>A	CCDS31519.1																																																																																				PASS	0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		13	68	13	68	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944289	55944289	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:55944289C>G	ENST00000312298.1	+	1	196	c.196C>G	c.(196-198)Ctt>Gtt	p.L66V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACTCAGCTGTCTTTCATTTGT	0.443																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(196-198)CTT>GTT		olfactory receptor, family 5, subfamily J,							207.0	179.0	188.0					11																	55944289		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944289C>G	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.196C>G	11.37:g.55944289C>G	ENSP00000310788:p.Leu66Val						p.L66V	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	196	+	Esophageal squamous(21;0.00693)		66			Helical; Name=2; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.196C>G	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	9.100	1.004006	0.19199	.	.	ENSG00000174957	ENST00000312298	T	0.00507	6.92	4.57	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000398	T	0.02649	0.0080	H	0.95504	3.68	0.09310	N	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.10941	-1.0608	10	0.87932	D	0	.	10.4482	0.44507	0.0:0.8323:0.0:0.1677	.	66	Q8NH18	OR5J2_HUMAN	V	66	ENSP00000310788:L66V	ENSP00000310788:L66V	L	+	1	0	OR5J2	55700865	0.007000	0.16637	0.007000	0.13788	0.050000	0.14768	0.010000	0.13242	1.083000	0.41159	-0.237000	0.12165	CTT		PASS	0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		23	87	23	87	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043645	56043645	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:56043645C>A	ENST00000313033.2	+	1	617	c.531C>A	c.(529-531)agC>agA	p.S177R		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S177R(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTACATTTAGCCTGTCCTTCT	0.418																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(529-531)AGC>AGA		olfactory receptor, family 5, subfamily T,							253.0	229.0	237.0					11																	56043645		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043645C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.531C>A	11.37:g.56043645C>A	ENSP00000323612:p.Ser177Arg						p.S177R	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	531	+	Esophageal squamous(21;0.00448)		177			Extracellular (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.531C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.296996	0.01364	.	.	ENSG00000181698	ENST00000313033	T	0.00169	8.63	3.44	0.449	0.16619	GPCR, rhodopsin-like superfamily (1);	0.324094	0.26170	N	0.025921	T	0.00073	0.0002	N	0.03177	-0.4	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.44997	-0.9291	10	0.02654	T	1	.	0.5987	0.00740	0.1735:0.329:0.1692:0.3283	.	177	Q8NG75	OR5T1_HUMAN	R	177	ENSP00000323612:S177R	ENSP00000323612:S177R	S	+	3	2	OR5T1	55800221	0.000000	0.05858	0.001000	0.08648	0.417000	0.31264	-2.070000	0.01380	0.279000	0.22186	0.465000	0.42564	AGC		PASS	0.418	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		8	116	8	116	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59224488	59224488	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:59224488C>A	ENST00000300127.2	+	1	78	c.55C>A	c.(55-57)Cgt>Agt	p.R19S		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R19S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGAACTTACACGTTCCCGAGA	0.443																																						uc010rku.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)CGT>AGT		olfactory receptor, family 4, subfamily D,							252.0	233.0	239.0					11																	59224488		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224488C>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.55C>A	11.37:g.59224488C>A	ENSP00000300127:p.Arg19Ser						p.R19S	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	55	+			19			Extracellular (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.55C>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	c	3.223	-0.159208	0.06544	.	.	ENSG00000166884	ENST00000300127	T	0.00433	7.43	6.01	0.658	0.17855	.	1.556680	0.03620	N	0.236201	T	0.00178	0.0005	N	0.01535	-0.81	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.32877	-0.9890	10	0.42905	T	0.14	1.074	3.9419	0.09331	0.1129:0.3588:0.3847:0.1437	.	19	Q8NGJ1	OR4D6_HUMAN	S	19	ENSP00000300127:R19S	ENSP00000300127:R19S	R	+	1	0	OR4D6	58981064	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.638000	0.05452	0.136000	0.18733	-0.119000	0.15052	CGT		PASS	0.443	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		34	93	34	93	---	---	---	---
TM7SF2	7108	broad.mit.edu	37	11	64880868	64880868	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:64880868G>C	ENST00000279263.7	+	4	643	c.481G>C	c.(481-483)Gca>Cca	p.A161P	TM7SF2_ENST00000345348.5_Missense_Mutation_p.A161P|TM7SF2_ENST00000540748.1_Missense_Mutation_p.A45P|TM7SF2_ENST00000531029.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	161					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.A161P(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCGGCCCTGGCACCTGGGGG	0.587											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)GCA>CCA		transmembrane 7 superfamily member 2							83.0	93.0	90.0					11																	64880868		1998	4155	6153	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64880868G>C	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.481G>C	11.37:g.64880868G>C	ENSP00000279263:p.Ala161Pro		OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	TM7SF2_uc010rny.1_Missense_Mutation_p.A45P|TM7SF2_uc001ocu.2_Missense_Mutation_p.A161P|TM7SF2_uc001ocv.2_Missense_Mutation_p.A182P	p.A161P	NM_003273	NP_003264	O76062	ERG24_HUMAN			4	628	+			161					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.481G>C	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962126	0.92791	.	.	ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000529414	D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	4.81	4.81	0.61882	.	0.053292	0.64402	D	0.000001	D	0.98893	0.9625	M	0.85630	2.765	0.58432	D	0.999998	D;D;D	0.71674	0.987;0.997;0.998	D;D;D	0.75020	0.936;0.975;0.985	D	0.99449	1.0940	10	0.72032	D	0.01	-21.3813	15.4064	0.74881	0.0:0.0:1.0:0.0	.	45;161;161	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	P	161;132;93;45;132;161;161	ENSP00000279263:A161P;ENSP00000435972:A132P;ENSP00000432187:A93P;ENSP00000441215:A45P;ENSP00000433325:A132P;ENSP00000329520:A161P;ENSP00000433275:A161P	ENSP00000279263:A161P	A	+	1	0	TM7SF2	64637444	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.464000	0.73534	2.498000	0.84270	0.561000	0.74099	GCA		PASS	0.587	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		16	81	16	81	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66254031	66254031	+	Silent	SNP	C	C	T	rs76983925		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:66254031C>T	ENST00000360510.2	+	4	446	c.381C>T	c.(379-381)atC>atT	p.I127I	DPP3_ENST00000453114.1_Silent_p.I127I|DPP3_ENST00000541961.1_Silent_p.I127I|DPP3_ENST00000532677.1_Silent_p.I146I|DPP3_ENST00000531863.1_Silent_p.I147I|DPP3_ENST00000530165.1_Silent_p.I97I			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	127					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I127I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AACGGGTGATCCTAGGGAGTG	0.602																																						uc001oig.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(379-381)ATC>ATT		dipeptidyl peptidase III							117.0	110.0	112.0					11																	66254031		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66254031C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.381C>T	11.37:g.66254031C>T						DPP3_uc001oif.1_Silent_p.I127I|DPP3_uc010rpe.1_Silent_p.I116I	p.I127I	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			4	443	+			127					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.381C>T	CCDS8141.1																																																																																				PASS	0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			21	114	21	114	---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411414	66411414	+	Silent	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:66411414A>T	ENST00000409406.1	+	2	1683	c.906A>T	c.(904-906)tcA>tcT	p.S302S	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000514361.3_Silent_p.S277S|RBM4_ENST00000503028.2_Silent_p.S302S|RBM4_ENST00000310092.7_Silent_p.S302S|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.S277S|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Silent_p.S302S			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	302	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S302S(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		ctTCCACTTCATATTACGGGC	0.612																																						uc009yrj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(904-906)TCA>TCT		RNA binding motif protein 4							35.0	38.0	37.0					11																	66411414		1953	4170	6123	SO:0001819	synonymous_variant	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66411414A>T	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.906A>T	11.37:g.66411414A>T						RBM4_uc009yrk.2_Silent_p.S277S|RBM4_uc001oiw.1_Silent_p.S302S|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.S302S|RBM4_uc001oiz.1_Silent_p.S302S	p.S302S	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	3	1394	+			302			Interaction with TNPO3.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.906A>T	CCDS41676.1																																																																																				PASS	0.612	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		8	28	8	28	---	---	---	---
AIP	9049	broad.mit.edu	37	11	67258318	67258318	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:67258318G>C	ENST00000279146.3	+	6	965	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	PITPNM1_ENST00000526450.1_5'Flank	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	283					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)	p.E283Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						GAATGCCCAGGAGGCCCAGGC	0.667									Familial Isolated Pituitary Adenoma																													uc001olv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)GAG>CAG		aryl hydrocarbon receptor interacting protein							35.0	37.0	36.0					11																	67258318		2199	4292	6491	SO:0001583	missense	9049	Familial_Isolated_Pituitary_Adenoma_	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67258318G>C	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.847G>C	11.37:g.67258318G>C	ENSP00000279146:p.Glu283Gln						p.E283Q	NM_003977	NP_003968	O00170	AIP_HUMAN			6	972	+			283			TPR 2.		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	ENST00000279146.3	37	c.847G>C	CCDS8168.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805048	0.50315	.	.	ENSG00000110711	ENST00000279146	T	0.76448	-1.02	5.27	4.36	0.52297	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.70842	2.15	0.80722	D	1	B	0.12630	0.006	B	0.20577	0.03	T	0.73620	-0.3925	10	0.46703	T	0.11	-40.0945	12.6983	0.57016	0.0812:0.0:0.9188:0.0	.	283	O00170	AIP_HUMAN	Q	283	ENSP00000279146:E283Q	ENSP00000279146:E283Q	E	+	1	0	AIP	67014894	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.415000	0.97375	1.362000	0.46000	0.561000	0.74099	GAG		PASS	0.667	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			4	25	4	25	---	---	---	---
GAL	51083	broad.mit.edu	37	11	68453099	68453099	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:68453099G>T	ENST00000265643.3	+	3	377	c.119G>T	c.(118-120)gGc>gTc	p.G40V		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	40					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)	p.G40V(1)		lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		AACAGCGCGGGCTACCTGCTG	0.632																																						uc001oob.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GGC>GTC		galanin preproprotein							77.0	63.0	67.0					11																	68453099		2200	4294	6494	SO:0001583	missense	51083				growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity	g.chr11:68453099G>T	L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.119G>T	11.37:g.68453099G>T	ENSP00000265643:p.Gly40Val						p.G40V	NM_015973	NP_057057	P22466	GALA_HUMAN	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)	3	337	+	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	40					Q14413	Missense_Mutation	SNP	ENST00000265643.3	37	c.119G>T	CCDS8183.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577686	0.65878	.	.	ENSG00000069482	ENST00000265643	T	0.68025	-0.3	3.36	3.36	0.38483	Galanin (4);	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81364	-0.0966	10	0.87932	D	0	-32.6576	10.0888	0.42434	0.0:0.0:1.0:0.0	.	40	P22466	GALA_HUMAN	V	40	ENSP00000265643:G40V	ENSP00000265643:G40V	G	+	2	0	GAL	68209675	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.420000	0.52735	1.709000	0.51313	0.561000	0.74099	GGC		PASS	0.632	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396843.2	NM_001479		6	60	6	60	---	---	---	---
CPT1A	1374	broad.mit.edu	37	11	68574951	68574951	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:68574951G>A	ENST00000265641.5	-	4	591	c.437C>T	c.(436-438)gCc>gTc	p.A146V	CPT1A_ENST00000376618.2_Missense_Mutation_p.A146V|CPT1A_ENST00000539743.1_Missense_Mutation_p.A146V|CPT1A_ENST00000540367.1_Missense_Mutation_p.A146V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	146					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.A146V(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GATCTTGGTGGCACGACTCAT	0.597																																						uc001oog.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(436-438)GCC>GTC		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						170.0	121.0	138.0					11																	68574951		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68574951G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.437C>T	11.37:g.68574951G>A	ENSP00000265641:p.Ala146Val					CPT1A_uc001oof.3_Missense_Mutation_p.A146V|CPT1A_uc009ysj.2_Missense_Mutation_p.A146V	p.A146V	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		4	607	-	Esophageal squamous(3;3.28e-14)		146			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.437C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664726	0.29604	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	6.04	2.95	0.34219	.	0.964061	0.08672	N	0.910791	T	0.70753	0.3260	L	0.34521	1.04	0.22675	N	0.998865	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.12156	0.002;0.007;0.005	T	0.49744	-0.8907	10	0.12766	T	0.61	.	18.7715	0.91893	0.0:0.5084:0.4916:0.0	.	146;146;146	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	V	146	ENSP00000439084:A146V;ENSP00000365803:A146V;ENSP00000265641:A146V;ENSP00000446108:A146V	ENSP00000265641:A146V	A	-	2	0	CPT1A	68331527	0.775000	0.28604	0.951000	0.38953	0.887000	0.51463	1.044000	0.30329	0.828000	0.34709	0.561000	0.74099	GCC		PASS	0.597	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		5	93	5	93	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70007429	70007429	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:70007429G>A	ENST00000355303.5	+	17	2046	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	ANO1_ENST00000531349.1_Missense_Mutation_p.E290K|ANO1_ENST00000316296.5_Missense_Mutation_p.E523K|ANO1_ENST00000538023.1_Missense_Mutation_p.E581K|ANO1_ENST00000530676.1_Missense_Mutation_p.E435K|ANO1_ENST00000398543.2_Missense_Mutation_p.E435K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	581					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.E581K(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCTCCTGGACGAGGTGTATGG	0.597																																						uc001opj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1741-1743)GAG>AAG		anoctamin 1, calcium activated chloride channel							105.0	109.0	107.0					11																	70007429		2181	4265	6446	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007429G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1741G>A	11.37:g.70007429G>A	ENSP00000347454:p.Glu581Lys					ANO1_uc001opk.1_Missense_Mutation_p.E523K|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E290K	p.E581K	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			17	2046	+			581			Helical; (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1741G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074896	0.94000	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	L	0.33339	1.005	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.75484	0.959;0.975;0.986	T	0.68413	-0.5415	9	.	.	.	.	19.2581	0.93955	0.0:0.0:1.0:0.0	.	290;523;581	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	K	581;581;435;339;523;435;290;132	ENSP00000347454:E581K;ENSP00000444689:E581K;ENSP00000381551:E435K;ENSP00000319477:E523K;ENSP00000435797:E435K;ENSP00000432843:E290K;ENSP00000435868:E132K	.	E	+	1	0	ANO1	69685077	1.000000	0.71417	0.970000	0.41538	0.744000	0.42396	9.553000	0.98118	2.547000	0.85894	0.655000	0.94253	GAG		PASS	0.597	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		19	245	19	245	---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70255985	70255985	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:70255985G>T	ENST00000301843.8	+	5	416	c.210G>T	c.(208-210)aaG>aaT	p.K70N	CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000346329.3_Missense_Mutation_p.K70N|CTTN_ENST00000376561.3_Missense_Mutation_p.K70N	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	70					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.K70N(3)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGACCCTTAAGGAGAAGGAAC	0.463																																						uc001opv.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(208-210)AAG>AAT		cortactin isoform a							210.0	207.0	208.0					11																	70255985		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70255985G>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.210G>T	11.37:g.70255985G>T	ENSP00000301843:p.Lys70Asn					CTTN_uc001opu.2_Missense_Mutation_p.K70N|CTTN_uc001opw.3_Missense_Mutation_p.K70N	p.K70N	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	5	416	+			70					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.210G>T	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.16|15.16	2.752128|2.752128	0.49362|0.49362	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561|ENST00000415461	T;T;T|.	0.36699|.	1.28;1.25;1.24|.	5.12|5.12	4.21|4.21	0.49690|0.49690	.|.	0.165200|.	0.53938|.	D|.	0.000052|.	T|T	0.77452|0.77452	0.4132|0.4132	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	P;P;P|.	0.49358|.	0.611;0.923;0.602|.	B;P;P|.	0.52267|.	0.287;0.694;0.467|.	T|T	0.79647|0.79647	-0.1716|-0.1716	10|5	0.87932|.	D|.	0|.	-42.1268|-42.1268	10.4489|10.4489	0.44509|0.44509	0.1698:0.0:0.8302:0.0|0.1698:0.0:0.8302:0.0	.|.	70;70;70|.	Q96H99;Q14247;Q8N707|.	.;SRC8_HUMAN;.|.	N|M	70|52	ENSP00000317189:K70N;ENSP00000301843:K70N;ENSP00000365745:K70N|.	ENSP00000301843:K70N|.	K|R	+|+	3|2	2|0	CTTN|CTTN	69933633|69933633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.015000|0.015000	0.08874|0.08874	3.292000|3.292000	0.51772|0.51772	1.149000|1.149000	0.42402|0.42402	0.563000|0.563000	0.77884|0.77884	AAG|AGG		PASS	0.463	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		12	925	12	925	---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74994459	74994459	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:74994459G>A	ENST00000420843.2	-	5	323	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	ARRB1_ENST00000393505.4_Missense_Mutation_p.R76C|ARRB1_ENST00000360025.3_Missense_Mutation_p.R76C	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	76	Interaction with CHRM2. {ECO:0000250}.|Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.R76C(1)		breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						AGGTCCTTGCGAAAGGTCAGG	0.642																																						uc001owe.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(226-228)CGC>TGC		arrestin beta 1 isoform A							75.0	65.0	68.0					11																	74994459		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74994459G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.226C>T	11.37:g.74994459G>A	ENSP00000409581:p.Arg76Cys					ARRB1_uc001owf.1_Missense_Mutation_p.R76C	p.R76C	NM_004041	NP_004032	P49407	ARRB1_HUMAN			5	448	-			76			Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.226C>T	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441520	0.63067	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.7	2.77	0.32553	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.968;0.991	T	0.53906	-0.8372	10	0.87932	D	0	-6.2033	9.4127	0.38503	0.1823:0.0:0.8177:0.0	.	76;76	P49407-2;P49407	.;ARRB1_HUMAN	C	76;76;76;71	ENSP00000409581:R76C;ENSP00000377141:R76C;ENSP00000353124:R76C;ENSP00000433171:R71C	ENSP00000353124:R76C	R	-	1	0	ARRB1	74672107	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.509000	0.53386	1.184000	0.42957	0.561000	0.74099	CGC		PASS	0.642	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		39	32	39	32	---	---	---	---
ATM	472	broad.mit.edu	37	11	108224510	108224510	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:108224510G>A	ENST00000452508.2	+	61	8878	c.8689G>A	c.(8689-8691)Ggc>Agc	p.G2897S	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.G2897S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2897	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G2897S(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTTGAACAGGGCAAAATCCT	0.408			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8689-8691)GGC>AGC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							192.0	181.0	185.0					11																	108224510		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108224510G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8689G>A	11.37:g.108224510G>A	ENSP00000388058:p.Gly2897Ser	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.G2897S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.G1549S	p.G2897S	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	60	9074	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2897			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8689G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455871	0.96223	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.75367	-0.93;-0.93	5.42	5.42	0.78866	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89778	0.3959	10	0.87932	D	0	.	19.2126	0.93763	0.0:0.0:1.0:0.0	.	2897	Q13315	ATM_HUMAN	S	2897	ENSP00000278616:G2897S;ENSP00000388058:G2897S	ENSP00000278616:G2897S	G	+	1	0	ATM	107729720	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.806000	0.99153	2.538000	0.85594	0.561000	0.74099	GGC		PASS	0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		29	52	29	52	---	---	---	---
CBL	867	broad.mit.edu	37	11	119155953	119155953	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:119155953C>A	ENST00000264033.4	+	11	1994	c.1618C>A	c.(1618-1620)Cga>Aga	p.R540R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	540	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R540R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCACACTTCGAGATCTTCC	0.532			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pwe.2				"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(1618-1620)CGA>AGA		Cas-Br-M (murine) ecotropic retroviral							93.0	92.0	92.0					11																	119155953		2199	4295	6494	SO:0001819	synonymous_variant	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119155953C>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1618C>A	11.37:g.119155953C>A			OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1494		p.R540R	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	11	1756	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	540			Pro-rich.		A3KMP8	Silent	SNP	ENST00000264033.4	37	c.1618C>A	CCDS8418.1																																																																																				PASS	0.532	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		5	68	5	68	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133805642	133805642	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:133805642C>G	ENST00000321016.8	-	7	1067	c.837G>C	c.(835-837)agG>agC	p.R279S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R279S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	279	Ig-like 3.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.R279S(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGATGCGCACCCTCAGCTTCA	0.632																																						uc001qgx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(835-837)AGG>AGC		immunoglobulin superfamily, member 9B							24.0	27.0	26.0					11																	133805642		2103	4206	6309	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133805642C>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.837G>C	11.37:g.133805642C>G	ENSP00000317980:p.Arg279Ser					IGSF9B_uc001qgy.1_Missense_Mutation_p.R121S	p.R279S	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	7	1068	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	279			Extracellular (Potential).|Ig-like 3.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.837G>C		.	.	.	.	.	.	.	.	.	.	C	19.82	3.898421	0.72639	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.39229	1.09;1.09;1.09	5.48	0.233	0.15386	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Fibronectin, type III (2);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64811	0.2632	M	0.84948	2.725	0.45733	D	0.998639	D	0.76494	0.999	D	0.85130	0.997	T	0.69587	-0.5105	9	0.87932	D	0	.	12.6621	0.56820	0.0:0.7627:0.0:0.2373	.	279	Q9UPX0	TUTLB_HUMAN	S	279;121;279	ENSP00000317980:R279S;ENSP00000436552:R121S;ENSP00000436576:R279S	ENSP00000317980:R279S	R	-	3	2	IGSF9B	133310852	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	0.771000	0.26633	0.115000	0.18071	0.561000	0.74099	AGG		PASS	0.632	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	7	5	7	---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134228991	134228991	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr11:134228991C>A	ENST00000535456.2	+	7	877	c.689C>A	c.(688-690)aCt>aAt	p.T230N	GLB1L2_ENST00000339772.7_Missense_Mutation_p.T230N|GLB1L2_ENST00000389881.3_Missense_Mutation_p.T230N|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	230					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.T230N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTGCTCCTGACTTCAGACAAC	0.612																																						uc001qhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(688-690)ACT>AAT		galactosidase, beta 1-like 2 precursor							214.0	185.0	195.0					11																	134228991		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134228991C>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.689C>A	11.37:g.134228991C>A	ENSP00000444628:p.Thr230Asn					GLB1L2_uc009zdg.1_RNA	p.T230N	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	7	877	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	230					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.689C>A	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.968571|3.968571	0.74131|0.74131	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000525089;ENST00000533324|ENST00000339772;ENST00000535456;ENST00000389881	.|D;D;D	.|0.98234	.|-4.81;-4.81;-4.81	4.72|4.72	4.72|4.72	0.59763|0.59763	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98991|0.98991	0.9656|0.9656	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.75484	.|0.986	D|D	0.99612|0.99612	1.0981|1.0981	5|10	.|0.87932	.|D	.|0	-25.7052|-25.7052	16.6162|16.6162	0.84916|0.84916	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|230	.|Q8IW92	.|GLBL2_HUMAN	E|N	168;57|230	.|ENSP00000344659:T230N;ENSP00000444628:T230N;ENSP00000374531:T230N	.|ENSP00000344659:T230N	D|T	+|+	3|2	2|0	GLB1L2|GLB1L2	133734201|133734201	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.608000|0.608000	0.37181|0.37181	6.520000|6.520000	0.73773|0.73773	2.460000|2.460000	0.83146|0.83146	0.561000|0.561000	0.74099|0.74099	GAC|ACT		PASS	0.612	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		4	78	4	78	---	---	---	---
C12orf5	57103	broad.mit.edu	37	12	4461510	4461510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:4461510G>T	ENST00000179259.4	+	6	533	c.466G>T	c.(466-468)Gga>Tga	p.G156*	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	156					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.G156*(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GTTTTCCCAAGGATCTCCAAG	0.363																																					Colon(1;100 192 35375 49454 52532)	uc001qmp.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(466-468)GGA>TGA		TP53-induced glycolysis and apoptosis regulator							61.0	62.0	62.0					12																	4461510		2203	4300	6503	SO:0001587	stop_gained	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4461510G>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.466G>T	12.37:g.4461510G>T	ENSP00000179259:p.Gly156*						p.G156*	NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		6	545	+			156					B2R840	Nonsense_Mutation	SNP	ENST00000179259.4	37	c.466G>T	CCDS8525.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527954	0.44969	.	.	ENSG00000078237	ENST00000179259	.	.	.	5.43	3.61	0.41365	.	0.921553	0.09416	N	0.805130	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-15.1785	7.6106	0.28129	0.1417:0.0:0.724:0.1342	.	.	.	.	X	156	.	ENSP00000179259:G156X	G	+	1	0	C12orf5	4331771	0.185000	0.23213	0.002000	0.10522	0.602000	0.36980	3.241000	0.51376	0.778000	0.33520	0.650000	0.86243	GGA		PASS	0.363	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		10	33	10	33	---	---	---	---
ZNF705A	440077	broad.mit.edu	37	12	8329842	8329842	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:8329842G>T	ENST00000359286.4	+	5	655	c.566G>T	c.(565-567)cGg>cTg	p.R189L	FAM66C_ENST00000456135.2_RNA|FAM66C_ENST00000544214.1_RNA|FAM66C_ENST00000454799.2_RNA	NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	189					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.R189L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		CGCCTTAGACGGCACAAGATG	0.393																																						uc001qud.1																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)CGG>CTG		zinc finger protein 705A							76.0	77.0	76.0					12																	8329842		2193	4290	6483	SO:0001583	missense	440077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:8329842G>T	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.566G>T	12.37:g.8329842G>T	ENSP00000352233:p.Arg189Leu					FAM66C_uc001que.3_5'Flank|FAM66C_uc001quf.3_5'Flank|FAM66C_uc009zgc.2_5'Flank|FAM66C_uc001qug.3_5'Flank	p.R189L	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN		Kidney(36;0.0877)	5	638	+			189			C2H2-type 1.			Missense_Mutation	SNP	ENST00000359286.4	37	c.566G>T	CCDS31737.1	.	.	.	.	.	.	.	.	.	.	.	5.394	0.257980	0.10239	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.07444	3.19;3.19	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.43766	-0.9371	8	.	.	.	.	2.8545	0.05568	0.3189:0.0:0.452:0.2291	.	189	Q6ZN79	Z705A_HUMAN	L	189	ENSP00000379816:R189L;ENSP00000352233:R189L	.	R	+	2	0	ZNF705A	8221109	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.294000	0.00258	-0.718000	0.04949	-0.498000	0.04607	CGG		PASS	0.393	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		37	74	37	74	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14832636	14832636	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:14832636C>A	ENST00000261170.3	-	6	921	c.785G>T	c.(784-786)cGa>cTa	p.R262L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	262					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.R262L(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGCCACTGCTCGGTCACCCTT	0.418																																						uc001rcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(784-786)CGA>CTA		guanylate cyclase 2C precursor							152.0	137.0	142.0					12																	14832636		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14832636C>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.785G>T	12.37:g.14832636C>A	ENSP00000261170:p.Arg262Leu					GUCY2C_uc009zhz.2_Missense_Mutation_p.R262L	p.R262L	NM_004963	NP_004954	P25092	GUC2C_HUMAN			6	922	-			262			Extracellular (Potential).		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.785G>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102789	0.20632	.	.	ENSG00000070019	ENST00000261170	T	0.74106	-0.81	5.57	-1.83	0.07833	Extracellular ligand-binding receptor (1);	1.229650	0.05517	N	0.561406	T	0.54919	0.1888	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.32161	-0.9917	10	0.10902	T	0.67	.	5.5306	0.16983	0.1365:0.4099:0.0:0.4536	.	262	P25092	GUC2C_HUMAN	L	262	ENSP00000261170:R262L	ENSP00000261170:R262L	R	-	2	0	GUCY2C	14723903	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-1.261000	0.02855	-0.234000	0.09782	-0.312000	0.09012	CGA		PASS	0.418	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			4	63	4	63	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14947584	14947584	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:14947584G>T	ENST00000261167.2	-	7	841	c.608C>A	c.(607-609)cCc>cAc	p.P203H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	203	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.P203H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGGACCAGGGGGAGGGCCAGG	0.512																																						uc001rci.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(607-609)CCC>CAC		WW domain binding protein 11							103.0	111.0	108.0					12																	14947584		2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947584G>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.608C>A	12.37:g.14947584G>T	ENSP00000261167:p.Pro203His						p.P203H	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			7	769	-			203			Pro-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.608C>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718636	0.68844	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79619	-0.1728	9	0.87932	D	0	-5.9577	15.0352	0.71741	0.0:0.0:1.0:0.0	.	203	Q9Y2W2	WBP11_HUMAN	H	203	.	ENSP00000261167:P203H	P	-	2	0	WBP11	14838851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.499000	0.84300	0.655000	0.94253	CCC		PASS	0.512	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		7	162	7	162	---	---	---	---
STK38L	23012	broad.mit.edu	37	12	27450705	27450705	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:27450705C>T	ENST00000389032.3	+	2	221	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.R18W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CAACCATACCCGGGAAAGAGT	0.403																																						uc001rhr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5						c.(52-54)CGG>TGG		serine/threonine kinase 38 like							100.0	102.0	101.0					12																	27450705		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27450705C>T	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.52C>T	12.37:g.27450705C>T	ENSP00000373684:p.Arg18Trp					STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Intron	p.R18W	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN			2	251	+	Colorectal(261;0.0847)		18						Missense_Mutation	SNP	ENST00000389032.3	37	c.52C>T	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128997	0.56721	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000545470;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.18	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	L	0.52905	1.665	0.80722	D	1	D	0.62365	0.991	P	0.44860	0.462	T	0.48043	-0.9069	10	0.66056	D	0.02	.	12.1215	0.53893	0.1362:0.7328:0.1309:0.0	.	18	Q9Y2H1	ST38L_HUMAN	W	18	ENSP00000437856:R18W;ENSP00000373684:R18W;ENSP00000439457:R18W;ENSP00000443838:R18W;ENSP00000442253:R18W;ENSP00000440279:R18W	ENSP00000373684:R18W	R	+	1	2	STK38L	27341972	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.716000	0.37981	0.634000	0.30469	-0.282000	0.10007	CGG		PASS	0.403	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		11	53	11	53	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45173639	45173639	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:45173639A>T	ENST00000429094.2	-	4	1006	c.502T>A	c.(502-504)Tgc>Agc	p.C168S	NELL2_ENST00000395487.2_Missense_Mutation_p.C167S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000549027.1_Missense_Mutation_p.C167S|NELL2_ENST00000333837.4_Missense_Mutation_p.C191S|NELL2_ENST00000452445.2_Missense_Mutation_p.C168S|NELL2_ENST00000551601.1_Missense_Mutation_p.C167S|NELL2_ENST00000437801.2_Missense_Mutation_p.C218S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	168	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.C168S(1)|p.C218S(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)		TACTTATTGCAGTCAATGTGT	0.398																																						uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(502-504)TGC>AGC		NEL-like protein 2 isoform b precursor							113.0	105.0	108.0					12																	45173639		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173639A>T	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.502T>A	12.37:g.45173639A>T	ENSP00000390680:p.Cys168Ser					NELL2_uc001rof.3_Missense_Mutation_p.C167S|NELL2_uc001roh.2_Missense_Mutation_p.C168S|NELL2_uc009zkd.2_Missense_Mutation_p.C167S|NELL2_uc010skz.1_Missense_Mutation_p.C218S|NELL2_uc010sla.1_Missense_Mutation_p.C191S|NELL2_uc001roi.1_Missense_Mutation_p.C168S|NELL2_uc010slb.1_Missense_Mutation_p.C167S|NELL2_uc001roj.2_Missense_Mutation_p.C168S	p.C168S	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	1097	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	168			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.502T>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668912	0.88348	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.03358	3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.991;1.0;1.0	D;D;D;D;D;D	0.97110	0.994;1.0;0.997;0.991;0.998;1.0	T	0.01010	-1.1482	10	0.87932	D	0	-11.4875	15.4002	0.74834	1.0:0.0:0.0:0.0	.	191;218;167;168;168;167	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	167;168;167;168;167;191;218;167;168;165	ENSP00000378866:C167S;ENSP00000390680:C168S;ENSP00000449332:C167S;ENSP00000394612:C168S;ENSP00000447927:C167S;ENSP00000327988:C191S;ENSP00000416341:C218S;ENSP00000447085:C168S;ENSP00000447384:C165S	ENSP00000327988:C191S	C	-	1	0	NELL2	43459906	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.282000	0.95840	2.037000	0.60232	0.533000	0.62120	TGC		PASS	0.398	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		13	61	13	61	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49443771	49443771	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:49443771G>C	ENST00000301067.7	-	11	3599	c.3600C>G	c.(3598-3600)atC>atG	p.I1200M		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1200					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I927M(1)|p.I1200M(1)									TGTCGGATTTGATGAGAGTGG	0.592																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3598-3600)ATC>ATG		myeloid/lymphoid or mixed-lineage leukemia 2							54.0	62.0	59.0					12																	49443771		2038	4172	6210	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49443771G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3600C>G	12.37:g.49443771G>C	ENSP00000301067:p.Ile1200Met	HNSCC(34;0.089)					p.I1200M	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3600	-			1200					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3600C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	2.754	-0.259405	0.05791	.	.	ENSG00000167548	ENST00000301067	D	0.81499	-1.5	5.53	1.63	0.23807	.	0.000000	0.39210	N	0.001425	T	0.70996	0.3288	N	0.19112	0.55	0.27850	N	0.940771	D	0.60160	0.987	P	0.54460	0.753	T	0.64478	-0.6398	10	0.87932	D	0	.	1.7462	0.02962	0.297:0.126:0.4479:0.129	.	1200	O14686	MLL2_HUMAN	M	1200	ENSP00000301067:I1200M	ENSP00000301067:I1200M	I	-	3	3	MLL2	47730038	1.000000	0.71417	0.998000	0.56505	0.474000	0.32979	1.020000	0.30027	0.025000	0.15241	-1.202000	0.01658	ATC		PASS	0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			16	41	16	41	---	---	---	---
BIN2	51411	broad.mit.edu	37	12	51685860	51685860	+	Missense_Mutation	SNP	C	C	A	rs150210505		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:51685860C>A	ENST00000267012.4	-	10	1091	c.1030G>T	c.(1030-1032)Gcc>Tcc	p.A344S	BIN2_ENST00000452142.2_Missense_Mutation_p.A312S|BIN2_ENST00000604560.1_Missense_Mutation_p.A317S|BIN2_ENST00000544402.1_Missense_Mutation_p.A318S	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	344					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.A344S(1)|p.A344T(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGGGCCTGGGCGGGGCCATTG	0.577																																						uc001ryg.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1030-1032)GCC>TCC		bridging integrator 2							43.0	43.0	43.0					12																	51685860		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51685860C>A	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1030G>T	12.37:g.51685860C>A	ENSP00000267012:p.Ala344Ser					BIN2_uc009zlz.2_Missense_Mutation_p.A312S|BIN2_uc001ryh.2_Missense_Mutation_p.A220S|BIN2_uc010sng.1_Missense_Mutation_p.A318S	p.A344S	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			10	1082	-			344					Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.1030G>T	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	3.380	-0.126656	0.06795	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96685	-4.09;-0.07;-0.09	4.95	-4.98	0.03019	.	1.839600	0.02748	N	0.117129	D	0.89483	0.6728	N	0.19112	0.55	0.09310	N	1	B;B;B	0.17038	0.011;0.02;0.006	B;B;B	0.15484	0.006;0.013;0.006	D	0.85094	0.0953	10	0.02654	T	1	-0.5209	8.508	0.33199	0.142:0.5885:0.0:0.2696	.	318;312;344	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	S	312;344;318	ENSP00000410217:A312S;ENSP00000267012:A344S;ENSP00000445874:A318S	ENSP00000267012:A344S	A	-	1	0	BIN2	49972127	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-1.756000	0.01813	-0.774000	0.04590	-0.345000	0.07892	GCC		PASS	0.577	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			3	22	3	22	---	---	---	---
DDIT3	1649	broad.mit.edu	37	12	57913018	57913018	+	Intron	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:57913018G>C	ENST00000346473.3	-	1	100				MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000552740.1_Intron|DDIT3_ENST00000547303.1_Intron|DDIT3_ENST00000551116.1_Intron	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						gtcactgaagggttttgagtg	0.438			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	hsa-mir-616|MI0003629				Dom	yes		12	12q13.1-q13.2	1649		DNA-damage-inducible transcript 3			M					0					0															57.0	56.0	56.0					12																	57913018		1568	3582	5150	SO:0001627	intron_variant	693201							g.chr12:57913018G>C	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.79+1182C>G	12.37:g.57913018G>C						DDIT3_uc001soi.2_Intron|DDIT3_uc009zps.2_Intron|DDIT3_uc009zpt.2_Intron										-								F8VS99	RNA	SNP	ENST00000346473.3	37	c.25G>C	CCDS8943.1																																																																																				PASS	0.438	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		4	24	4	24	---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69968637	69968637	+	Nonsense_Mutation	SNP	G	G	T	rs374895197		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:69968637G>T	ENST00000550389.1	+	7	1675	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	FRS2_ENST00000397997.2_Nonsense_Mutation_p.E477*|FRS2_ENST00000549921.1_Nonsense_Mutation_p.E477*|FRS2_ENST00000299293.2_Nonsense_Mutation_p.E477*	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	477					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E477*(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GATAGACATCGAGAGAACTGC	0.493																																						uc001suy.2																			2	Substitution - Nonsense(2)		lung(2)	prostate(1)|kidney(1)	2						c.(1429-1431)GAG>TAG		fibroblast growth factor receptor substrate 2							110.0	106.0	108.0					12																	69968637		2021	4184	6205	SO:0001587	stop_gained	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968637G>T	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1429G>T	12.37:g.69968637G>T	ENSP00000447241:p.Glu477*					FRS2_uc001suz.2_Nonsense_Mutation_p.E477*|FRS2_uc009zrj.2_Nonsense_Mutation_p.E477*|FRS2_uc009zrk.2_Nonsense_Mutation_p.E477*	p.E477*	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1939	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		477					B0LPF2|B2R684|O43558|Q7LDQ6	Nonsense_Mutation	SNP	ENST00000550389.1	37	c.1429G>T	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	G	36	5.776305	0.96922	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.7972	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	477	.	.	E	+	1	0	FRS2	68254904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.654000	0.67974	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.493	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		5	113	5	113	---	---	---	---
SLC41A2	84102	broad.mit.edu	37	12	105282956	105282956	+	Splice_Site	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:105282956C>A	ENST00000258538.3	-	4	863		c.e4-1			NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.?(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTGCCTGAACCTAAAATTTTT	0.299																																					Esophageal Squamous(195;176 2919 4272 35572)	uc001tla.2																			2	Unknown(2)		lung(2)	ovary(1)|skin(1)	2						c.e4-1		solute carrier family 41, member 2							59.0	61.0	60.0					12																	105282956		2203	4300	6503	SO:0001630	splice_region_variant	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105282956C>A	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.736-1G>T	12.37:g.105282956C>A							p.V246_splice	NM_032148	NP_115524	Q96JW4	S41A2_HUMAN			4	903	-								Q3KP68|Q9H0E5	Splice_Site	SNP	ENST00000258538.3	37	c.736_splice	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209266	0.58343	.	.	ENSG00000136052	ENST00000258538;ENST00000437220	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4866	0.95032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC41A2	103807086	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	7.264000	0.78432	2.612000	0.88384	0.591000	0.81541	.		PASS	0.299	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148	Intron	6	14	6	14	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110656005	110656005	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:110656005G>T	ENST00000242591.5	+	19	2511	c.2005G>T	c.(2005-2007)Ggt>Tgt	p.G669C	IFT81_ENST00000552912.1_Missense_Mutation_p.G669C	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	669					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.G669C(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATTCAGGAGGGTGGGGAGGA	0.388																																						uc001tqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2005-2007)GGT>TGT		intraflagellar transport 81-like isoform 1							181.0	170.0	173.0					12																	110656005		1893	4116	6009	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110656005G>T	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.2005G>T	12.37:g.110656005G>T	ENSP00000242591:p.Gly669Cys					IFT81_uc001tqh.2_Missense_Mutation_p.G669C|IFT81_uc001tqj.2_RNA	p.G669C	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			19	2135	+			669					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.2005G>T	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.041080	0.75732	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.1	5.1	0.69264	.	0.212871	0.47852	D	0.000212	T	0.71837	0.3387	L	0.44542	1.39	0.49389	D	0.99978	D	0.67145	0.996	P	0.61201	0.885	T	0.73789	-0.3872	9	0.59425	D	0.04	-18.576	18.9178	0.92513	0.0:0.0:1.0:0.0	.	669	Q8WYA0	IFT81_HUMAN	C	669;669;100	.	ENSP00000242591:G669C	G	+	1	0	IFT81	109140388	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.414000	0.80117	2.540000	0.85666	0.485000	0.47835	GGT		PASS	0.388	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		18	56	18	56	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117672370	117672370	+	Splice_Site	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:117672370C>A	ENST00000338101.4	-	21	3341	c.3337G>T	c.(3337-3339)Ggt>Tgt	p.G1113C	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Splice_Site_p.G1079C			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.G1079C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGAATGTTACCTAAAGCCGTG	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(3235-3237)GGT>TGT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						46.0	49.0	48.0					12																	117672370		2001	4173	6174	SO:0001630	splice_region_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117672370C>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3337+1G>T	12.37:g.117672370C>A							p.G1079C	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	21	3921	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1079			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000338101.4	37	c.3235G>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263030	0.80358	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.34472	1.36;1.36	5.05	5.05	0.67936	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.74612	-0.3607	9	.	.	.	-19.2745	18.583	0.91178	0.0:1.0:0.0:0.0	.	1079	P29475	NOS1_HUMAN	C	974;1079;1079;1113	ENSP00000320758:G1079C;ENSP00000337459:G1113C	.	G	-	1	0	NOS1	116156753	1.000000	0.71417	0.998000	0.56505	0.432000	0.31715	5.975000	0.70475	2.615000	0.88500	0.561000	0.74099	GGT		PASS	0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		Missense_Mutation	5	29	5	29	---	---	---	---
MPHOSPH8	54737	broad.mit.edu	37	13	20240600	20240600	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr13:20240600C>A	ENST00000361479.5	+	10	2123	c.2055C>A	c.(2053-2055)ctC>ctA	p.L685L	MPHOSPH8_ENST00000414242.2_Silent_p.L685L	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	685					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)	p.L685L(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TCGTACGACTCGTAATTGAAT	0.443																																						uc001umh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2053-2055)CTC>CTA		M-phase phosphoprotein 8							188.0	160.0	170.0					13																	20240600		2203	4300	6503	SO:0001819	synonymous_variant	54737				cell cycle	cytoplasm|nucleus		g.chr13:20240600C>A	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2055C>A	13.37:g.20240600C>A						MPHOSPH8_uc001umg.2_Silent_p.L685L	p.L685L	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	10	2064	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	685			ANK 3.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Silent	SNP	ENST00000361479.5	37	c.2055C>A	CCDS9287.1																																																																																				PASS	0.443	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		6	259	6	259	---	---	---	---
SOHLH2	54937	broad.mit.edu	37	13	36747888	36747888	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr13:36747888G>A	ENST00000379881.3	-	9	1029	c.941C>T	c.(940-942)aCg>aTg	p.T314M	SOHLH2_ENST00000554962.1_Missense_Mutation_p.T391M|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.T391M	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	314					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T314M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATTCCAGCACGTATTAGTCAG	0.483																																						uc001uvj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)ACG>ATG		spermatogenesis and oogenesis specific basic							122.0	111.0	115.0					13																	36747888		2203	4300	6503	SO:0001583	missense	54937				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	g.chr13:36747888G>A	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.941C>T	13.37:g.36747888G>A	ENSP00000369210:p.Thr314Met					SOHLH2_uc010tei.1_Missense_Mutation_p.T391M	p.T314M	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	9	1030	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	314					B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.941C>T	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	6.592	0.477614	0.12521	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.32753	1.44;1.44;1.44	5.8	1.95	0.26073	.	0.782681	0.11695	N	0.538535	T	0.16685	0.0401	N	0.22421	0.69	0.09310	N	1	D;D	0.58620	0.983;0.983	B;B	0.38156	0.266;0.197	T	0.11842	-1.0571	10	0.56958	D	0.05	-1.1088	5.1998	0.15258	0.0:0.164:0.1594:0.6766	.	391;314	B4DX90;Q9NX45	.;SOLH2_HUMAN	M	314;391;391	ENSP00000369210:T314M;ENSP00000451542:T391M;ENSP00000421868:T391M	ENSP00000421868:T391M	T	-	2	0	CCDC169-SOHLH2;SOHLH2	35645888	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	0.695000	0.25527	0.112000	0.17975	-0.457000	0.05445	ACG		PASS	0.483	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		7	72	7	72	---	---	---	---
COG3	83548	broad.mit.edu	37	13	46077414	46077414	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr13:46077414G>T	ENST00000349995.5	+	14	1636	c.1524G>T	c.(1522-1524)aaG>aaT	p.K508N	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	508					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.K508N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AACAGAAGAAGGTACCTTCAG	0.378																																					Ovarian(150;1048 1859 18083 21577 42700)	uc001vak.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1522-1524)AAG>AAT		component of golgi transport complex 3							115.0	111.0	113.0					13																	46077414		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46077414G>T	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1524G>T	13.37:g.46077414G>T	ENSP00000258654:p.Lys508Asn					COG3_uc001vaj.1_Missense_Mutation_p.K508N|COG3_uc010tfv.1_Missense_Mutation_p.K345N|COG3_uc010aci.2_Missense_Mutation_p.K284N	p.K508N	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	14	1625	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	508					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1524G>T	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305318	0.40795	.	.	ENSG00000136152	ENST00000349995	T	0.47869	0.83	5.85	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.42245	1.32	0.54753	D	0.999985	B;B	0.12013	0.001;0.005	B;B	0.11329	0.003;0.006	T	0.08973	-1.0696	10	0.24483	T	0.36	-17.2205	8.5588	0.33498	0.2949:0.0:0.7051:0.0	.	345;508	B4E2F3;Q96JB2	.;COG3_HUMAN	N	508	ENSP00000258654:K508N	ENSP00000258654:K508N	K	+	3	2	COG3	44975415	0.809000	0.29036	0.843000	0.33291	0.982000	0.71751	1.057000	0.30492	0.373000	0.24621	0.637000	0.83480	AAG		PASS	0.378	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			5	50	5	50	---	---	---	---
SLAIN1	122060	broad.mit.edu	37	13	78335084	78335084	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr13:78335084G>T	ENST00000466548.1	+	7	1496	c.1470G>T	c.(1468-1470)atG>atT	p.M490I	SLAIN1_ENST00000314070.5_Missense_Mutation_p.M113I|SLAIN1_ENST00000351546.3_Missense_Mutation_p.M227I|SLAIN1_ENST00000418532.1_Missense_Mutation_p.M271I|SLAIN1_ENST00000358679.3_Missense_Mutation_p.M227I|SLAIN1_ENST00000267219.8_Missense_Mutation_p.M271I|SLAIN1_ENST00000488699.1_Missense_Mutation_p.M348I	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	490								p.M271I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		GCAGTAACATGCCTTTATCAA	0.522																																						uc010thy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1042-1044)ATG>ATT		SLAIN motif family, member 1 B							134.0	115.0	122.0					13																	78335084		2203	4300	6503	SO:0001583	missense	122060							g.chr13:78335084G>T	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1470G>T	13.37:g.78335084G>T	ENSP00000419730:p.Met490Ile					SLAIN1_uc001vkk.1_Missense_Mutation_p.M271I|SLAIN1_uc001vkl.1_Missense_Mutation_p.M227I|SLAIN1_uc010thz.1_Missense_Mutation_p.M226I|SLAIN1_uc010aex.1_Missense_Mutation_p.M113I|SLAIN1_uc010aey.1_Missense_Mutation_p.M113I|SLAIN1_uc001vkm.2_Missense_Mutation_p.M227I	p.M348I	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	6	1087	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	490					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37	c.1044G>T		.	.	.	.	.	.	.	.	.	.	G	0.644	-0.812321	0.02798	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000314070;ENST00000358679	.	.	.	6.06	4.13	0.48395	.	0.627918	0.17629	N	0.167446	T	0.24851	0.0603	N	0.11560	0.145	0.33038	D	0.531092	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.25916	-1.0118	9	0.18276	T	0.48	-0.8002	7.7428	0.28851	0.0:0.219:0.4565:0.3246	.	226;348;113;490	B7Z326;B7Z209;Q8ND10;Q8ND83	.;.;.;SLAI1_HUMAN	I	490;490;271;348;271;227;227;113;227	.	ENSP00000267219:M271I	M	+	3	0	SLAIN1	77233085	1.000000	0.71417	0.950000	0.38849	0.526000	0.34562	1.989000	0.40707	1.536000	0.49237	0.655000	0.94253	ATG		PASS	0.522	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		16	43	16	43	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108863508	108863508	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr13:108863508T>A	ENST00000356922.4	-	2	381	c.109A>T	c.(109-111)Aga>Tga	p.R37*	LIG4_ENST00000405925.1_Nonsense_Mutation_p.R37*|LIG4_ENST00000442234.1_Nonsense_Mutation_p.R37*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	37					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R37*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGAAGTGTCTGATTTTTTCT	0.363								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(109-111)AGA>TGA	NHEJ	DNA ligase IV							51.0	53.0	53.0					13																	108863508		2203	4299	6502	SO:0001587	stop_gained	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863508T>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.109A>T	13.37:g.108863508T>A	ENSP00000349393:p.Arg37*					LIG4_uc001vqo.2_Nonsense_Mutation_p.R37*|LIG4_uc010agg.1_5'UTR|LIG4_uc010agf.2_Nonsense_Mutation_p.R37*|LIG4_uc001vqp.2_Nonsense_Mutation_p.R37*	p.R37*	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	382	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		37					Q8IY66|Q8TEU5	Nonsense_Mutation	SNP	ENST00000356922.4	37	c.109A>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585564	0.66105	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	6.15	4.95	0.65309	.	0.241197	0.48286	D	0.000197	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	11.6656	0.51372	0.0:0.0:0.282:0.718	.	.	.	.	X	37	.	ENSP00000349393:R37X	R	-	1	2	LIG4	107661509	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.691000	0.61738	1.104000	0.41587	0.523000	0.50628	AGA		PASS	0.363	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		10	17	10	17	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109859134	109859134	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr13:109859134G>T	ENST00000357550.2	+	34	5568	c.5527G>T	c.(5527-5529)Ggg>Tgg	p.G1843W	MYO16_ENST00000356711.2_Missense_Mutation_p.G1843W	NM_001198950.1	NP_001185879.1			myosin XVI									p.G1843W(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)			GAAGCCGGAAGGGGCCTCCTG	0.582																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(5527-5529)GGG>TGG		myosin heavy chain Myr 8							36.0	35.0	35.0					13																	109859134		2203	4300	6503	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.chr13:109859134G>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.5527G>T	13.37:g.109859134G>T	ENSP00000350160:p.Gly1843Trp					MYO16_uc010agk.1_Missense_Mutation_p.G1865W	p.G1843W	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		35	5653	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1843						Missense_Mutation	SNP	ENST00000357550.2	37	c.5527G>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361113	0.41801	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	D;D	0.81908	-1.55;-1.55	5.05	4.2	0.49525	.	0.368895	0.19323	U	0.117093	T	0.82222	0.4990	L	0.38175	1.15	0.80722	D	1	D	0.63046	0.992	P	0.55713	0.782	T	0.79291	-0.1864	9	.	.	.	.	10.7474	0.46189	0.0877:0.0:0.9123:0.0	.	1843	Q9Y6X6	MYO16_HUMAN	W	1843	ENSP00000349145:G1843W;ENSP00000350160:G1843W	.	G	+	1	0	MYO16	108657135	1.000000	0.71417	0.871000	0.34182	0.572000	0.35998	5.712000	0.68407	1.128000	0.42052	0.563000	0.77884	GGG		PASS	0.582	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		21	14	21	14	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248579	20248579	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr14:20248579C>A	ENST00000315957.4	+	1	179	c.98C>A	c.(97-99)tCc>tAc	p.S33Y		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S33Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTCTATCCTTCTATTTG	0.413																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TCC>TAC		olfactory receptor, family 4, subfamily M,							198.0	214.0	209.0					14																	20248579		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248579C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.98C>A	14.37:g.20248579C>A	ENSP00000319654:p.Ser33Tyr						p.S33Y	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	98	+	all_cancers(95;0.00108)		33			Helical; Name=1; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.98C>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	1.834	-0.469138	0.04445	.	.	ENSG00000176299	ENST00000315957	T	0.00449	7.37	4.2	1.38	0.22167	.	0.147378	0.31936	N	0.006835	T	0.00271	0.0008	L	0.41492	1.28	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.44817	-0.9303	10	0.49607	T	0.09	-11.5541	5.8677	0.18786	0.0:0.5818:0.0:0.4182	.	33	Q8NGD0	OR4M1_HUMAN	Y	33	ENSP00000319654:S33Y	ENSP00000319654:S33Y	S	+	2	0	OR4M1	19318419	0.000000	0.05858	0.900000	0.35374	0.286000	0.27126	-0.348000	0.07740	0.538000	0.28769	-0.518000	0.04402	TCC		PASS	0.413	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			61	81	61	81	---	---	---	---
RNASE12	493901	broad.mit.edu	37	14	21058511	21058511	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr14:21058511G>T	ENST00000556526.1	-	1	471	c.372C>A	c.(370-372)tcC>tcA	p.S124S	RNASE11_ENST00000555283.1_Intron|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000554006.1_RNA|RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000432835.2_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RNASE11_ENST00000553849.1_5'Flank|RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000555841.1_5'Flank	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	124						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.S124S(1)		kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CCTCTGTGGGGGAATAGTGGT	0.458																																						uc001vxt.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(370-372)TCC>TCA		ribonuclease, RNase A family, 12 (non-active)							82.0	80.0	81.0					14																	21058511		2203	4300	6503	SO:0001819	synonymous_variant	493901					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21058511G>T		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.372C>A	14.37:g.21058511G>T						RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	p.S124S	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)	1	472	-	all_cancers(95;0.00238)		124						Silent	SNP	ENST00000556526.1	37	c.372C>A	CCDS32037.1																																																																																				PASS	0.458	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			7	98	7	98	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23519129	23519129	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr14:23519129C>T	ENST00000267383.5	-	9	1593	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	CDH24_ENST00000397359.3_Missense_Mutation_p.V501M|CDH24_ENST00000554034.1_Missense_Mutation_p.V463M|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.V463M			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	501	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.V463M(1)|p.V501M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCCACTTGCACGCGCGAGGCC	0.542																																						uc001wil.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1501-1503)GTG>ATG		cadherin-like 24 isoform 1							88.0	74.0	79.0					14																	23519129		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23519129C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1501G>A	14.37:g.23519129C>T	ENSP00000267383:p.Val501Met					CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.V463M	p.V501M	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	10	1761	-	all_cancers(95;3.3e-05)		501			Cadherin 4.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.1501G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054732	0.75960	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.61510	0.1;0.61;0.61;0.1	4.86	4.86	0.63082	Cadherin (4);	0.072276	0.56097	D	0.000036	T	0.48960	0.1529	L	0.45744	1.44	0.49915	D	0.999831	B;P	0.39748	0.362;0.686	B;B	0.30251	0.113;0.107	T	0.59606	-0.7423	10	0.87932	D	0	.	16.9005	0.86112	0.0:1.0:0.0:0.0	.	463;501	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	M	501;463;463;501	ENSP00000380517:V501M;ENSP00000434821:V463M;ENSP00000452493:V463M;ENSP00000267383:V501M	ENSP00000267383:V501M	V	-	1	0	CDH24	22588969	0.998000	0.40836	0.859000	0.33776	0.862000	0.49288	5.603000	0.67619	2.533000	0.85409	0.561000	0.74099	GTG		PASS	0.542	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		41	38	41	38	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30068938	30068938	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr14:30068938C>G	ENST00000331968.5	-	14	2220	c.1991G>C	c.(1990-1992)gGa>gCa	p.G664A	PRKD1_ENST00000415220.2_Missense_Mutation_p.G672A	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	664	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G664A(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGCATGTCTCCATGGAGTTT	0.378																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1990-1992)GGA>GCA		protein kinase D1							112.0	110.0	110.0					14																	30068938		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30068938C>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1991G>C	14.37:g.30068938C>G	ENSP00000333568:p.Gly664Ala						p.G664A	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	14	2172	-	Hepatocellular(127;0.0604)		664			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1991G>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716814	0.89205	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.86030	-2.06;-2.06	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93669	0.6988	10	0.87932	D	0	-14.6316	20.3932	0.98965	0.0:1.0:0.0:0.0	.	664	Q15139	KPCD1_HUMAN	A	664;672	ENSP00000333568:G664A;ENSP00000390535:G672A	ENSP00000333568:G664A	G	-	2	0	PRKD1	29138689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	GGA		PASS	0.378	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		9	39	9	39	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42357069	42357069	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr14:42357069C>A	ENST00000298119.4	+	3	2430	c.1241C>A	c.(1240-1242)aCt>aAt	p.T414N	LRFN5_ENST00000554171.1_Missense_Mutation_p.T414N|LRFN5_ENST00000554120.1_Missense_Mutation_p.T414N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	414	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.T414N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AATGGTGATACTAAATTGAGT	0.353										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1240-1242)ACT>AAT		leucine rich repeat and fibronectin type III							76.0	75.0	76.0					14																	42357069		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42357069C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1241C>A	14.37:g.42357069C>A	ENSP00000298119:p.Thr414Asn	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.T414N	p.T414N	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2439	+			414			Extracellular (Potential).|Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1241C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226077	0.39300	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51817	0.81;0.69;0.69	5.4	5.4	0.78164	Fibronectin, type III (2);	0.000000	0.64402	D	0.000018	T	0.44850	0.1313	L	0.43152	1.355	0.58432	D	0.999999	B;B	0.29716	0.214;0.255	B;B	0.34652	0.187;0.122	T	0.25984	-1.0116	10	0.25106	T	0.35	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	414;414	G3V364;Q96NI6	.;LRFN5_HUMAN	N	414	ENSP00000298119:T414N;ENSP00000451897:T414N;ENSP00000451067:T414N	ENSP00000298119:T414N	T	+	2	0	LRFN5	41426819	0.978000	0.34361	0.998000	0.56505	0.971000	0.66376	3.208000	0.51114	2.680000	0.91292	0.563000	0.77884	ACT		PASS	0.353	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		9	16	9	16	---	---	---	---
MIR494	574452	broad.mit.edu	37	14	101493144	101493144	+	RNA	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr14:101493144G>T	ENST00000349529.2	+	0	0				MIR323A_ENST00000362199.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR758_ENST00000390227.1_RNA|MIR380_ENST00000362112.2_RNA|MIR299_ENST00000385016.2_RNA|MIR329-1_ENST00000385028.1_RNA|MIR329-2_ENST00000385029.1_RNA	NR_030174.1				microRNA 494																		GAGGTTTTCTGGGTTTCTGTT	0.448																																						hsa-mir-329-1|MI0001725																			0					0															250.0	210.0	222.0					14																	101493144		1568	3582	5150			574408							g.chr14:101493144G>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493144G>T						MIR329-2_hsa-mir-329-2|MI0001726_5'Flank|MIR494_hsa-mir-494|MI0003134_5'Flank|uc010txm.1_5'Flank										+									RNA	SNP	ENST00000349529.2	37	c.23G>T																																																																																					PASS	0.448	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		29	56	29	56	---	---	---	---
GPR132	29933	broad.mit.edu	37	14	105518036	105518036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr14:105518036G>T	ENST00000329797.3	-	4	1349	c.438C>A	c.(436-438)taC>taA	p.Y146*	GPR132_ENST00000539291.2_Nonsense_Mutation_p.Y146*|GPR132_ENST00000392585.2_Nonsense_Mutation_p.Y137*|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	146					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y146*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCTCCAGCGCGTACACCACGG	0.622																																						uc001yqd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(436-438)TAC>TAA		G protein-coupled receptor 132							88.0	79.0	82.0					14																	105518036		2203	4300	6503	SO:0001587	stop_gained	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518036G>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.438C>A	14.37:g.105518036G>T	ENSP00000328818:p.Tyr146*					GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Nonsense_Mutation_p.Y137*	p.Y146*	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1337	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	146			Cytoplasmic (Potential).		A8K7X7|B4E144|Q9BSU2	Nonsense_Mutation	SNP	ENST00000329797.3	37	c.438C>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	g	39	7.314651	0.98207	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	.	.	.	4.83	-4.23	0.03789	.	0.152040	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	13.498	0.61436	0.4991:0.0:0.5009:0.0	.	.	.	.	X	146;137;146	.	ENSP00000328818:Y146X	Y	-	3	2	GPR132	104589081	0.012000	0.17670	0.102000	0.21198	0.016000	0.09150	-0.506000	0.06359	-0.790000	0.04492	-2.486000	0.00196	TAC		PASS	0.622	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		19	28	19	28	---	---	---	---
IGHV1-46	28465	broad.mit.edu	37	14	106967470	106967470	+	RNA	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr14:106967470C>T	ENST00000390622.2	-	0	318									immunoglobulin heavy variable 1-46																		AGAAGACCCTCCAGGTCCAGT	0.498																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							87.0	88.0	87.0					14																	106967470		1888	4102	5990			8755							g.chr14:106967470C>T	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967470C>T														201		-									RNA	SNP	ENST00000390622.2	37	c.8971G>A																																																																																					PASS	0.498	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		36	51	36	51	---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55838299	55838299	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr15:55838299G>T	ENST00000302000.6	-	3	1276	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	PYGO1_ENST00000563719.1_Silent_p.T394T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	394					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T394T(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CAGCCATACAGGTATCACAGC	0.443																																						uc010bfl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1180-1182)ACC>ACA		pygopus homolog 1							118.0	101.0	107.0					15																	55838299		2193	4292	6485	SO:0001819	synonymous_variant	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838299G>T	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.1182C>A	15.37:g.55838299G>T						PYGO1_uc002adf.1_Silent_p.T394T	p.T394T	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	1238	-			394			PHD-type.		A7Y2D6	Silent	SNP	ENST00000302000.6	37	c.1182C>A	CCDS10155.1																																																																																				PASS	0.443	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		13	51	13	51	---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58256106	58256106	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr15:58256106G>T	ENST00000249750.4	-	9	1830	c.1063C>A	c.(1063-1065)Ccc>Acc	p.P355T	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.P334T|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.P259T|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P317T|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.P326T	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	355					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.P355T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCAGTGGTGGGGTCAAAGGGA	0.527																																						uc002aex.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1063-1065)CCC>ACC		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						78.0	82.0	80.0					15																	58256106		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58256106G>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1063C>A	15.37:g.58256106G>T	ENSP00000249750:p.Pro355Thr					ALDH1A2_uc002aey.2_Missense_Mutation_p.P317T|ALDH1A2_uc010ugv.1_Missense_Mutation_p.P334T|ALDH1A2_uc010ugw.1_Missense_Mutation_p.P326T|ALDH1A2_uc002aew.2_Missense_Mutation_p.P259T	p.P355T	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	9	1121	-			355					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1063C>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618390	0.46736	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.77229	-1.08;-1.08;-1.08	5.6	5.6	0.85130	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	M	0.74647	2.275	0.80722	D	1	B;B;B;B	0.29716	0.078;0.038;0.254;0.255	B;B;B;B	0.32022	0.019;0.007;0.139;0.128	T	0.74084	-0.3779	10	0.11182	T	0.66	.	19.9894	0.97361	0.0:0.0:1.0:0.0	.	326;334;317;355	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	T	355;259;326;317;334	ENSP00000249750:P355T;ENSP00000309623:P317T;ENSP00000438296:P334T	ENSP00000249750:P355T	P	-	1	0	ALDH1A2	56043398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.786000	0.95864	0.650000	0.86243	CCC		PASS	0.527	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			21	32	21	32	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65489533	65489533	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr15:65489533C>A	ENST00000261883.4	-	9	3257	c.3091G>T	c.(3091-3093)Ggc>Tgc	p.G1031C		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1031					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.G1031C(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CGGCAGCTGCCCTGGGGGATG	0.577																																						uc002aon.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(3091-3093)GGC>TGC		cartilage intermediate layer protein							113.0	73.0	86.0					15																	65489533		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489533C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3091G>T	15.37:g.65489533C>A	ENSP00000261883:p.Gly1031Cys						p.G1031C	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	3272	-			1031					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3091G>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159540	0.57368	.	.	ENSG00000138615	ENST00000261883	T	0.09538	2.97	5.39	4.48	0.54585	.	0.046861	0.85682	D	0.000000	T	0.33323	0.0859	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10941	-1.0608	10	0.87932	D	0	-5.2818	12.9585	0.58444	0.0:0.9223:0.0:0.0777	.	1031	O75339	CILP1_HUMAN	C	1031	ENSP00000261883:G1031C	ENSP00000261883:G1031C	G	-	1	0	CILP	63276586	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.795000	0.85887	1.275000	0.44379	0.655000	0.94253	GGC		PASS	0.577	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		13	32	13	32	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70347520	70347520	+	Silent	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr15:70347520G>A	ENST00000558939.1	-	15	2832	c.1455C>T	c.(1453-1455)caC>caT	p.H485H	TLE3_ENST00000557997.1_Silent_p.H477H|TLE3_ENST00000451782.2_Silent_p.H482H|TLE3_ENST00000560589.1_Silent_p.H429H|TLE3_ENST00000442299.2_Silent_p.H477H|TLE3_ENST00000558201.1_Silent_p.H491H|TLE3_ENST00000558379.1_Silent_p.H480H|TLE3_ENST00000559929.1_Silent_p.H495H|TLE3_ENST00000559191.1_Silent_p.H66H|TLE3_ENST00000440567.3_Silent_p.H475H|TLE3_ENST00000560939.1_Silent_p.H487H|TLE3_ENST00000557907.1_Silent_p.H477H|TLE3_ENST00000559048.1_Silent_p.H485H|TLE3_ENST00000317509.8_Silent_p.H473H|TLE3_ENST00000539550.1_Silent_p.H412H	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	485					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.H485H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCACCTCCCCGTGGCTGAGTG	0.662																																						uc002asm.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(1453-1455)CAC>CAT		transducin-like enhancer protein 3 isoform a							67.0	72.0	70.0					15																	70347520		2199	4298	6497	SO:0001819	synonymous_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70347520G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1455C>T	15.37:g.70347520G>A						TLE3_uc002ask.2_Silent_p.H412H|TLE3_uc002asl.2_Silent_p.H485H|TLE3_uc010ukd.1_Silent_p.H475H|TLE3_uc010bik.1_Silent_p.H66H|TLE3_uc010bil.1_Silent_p.H482H|TLE3_uc002asn.2_Silent_p.H473H|TLE3_uc002asp.2_Silent_p.H477H|TLE3_uc002aso.2_Silent_p.H480H	p.H485H	NM_005078	NP_005069	Q04726	TLE3_HUMAN			15	2574	-			485			WD 1.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.1455C>T	CCDS45293.1																																																																																				PASS	0.662	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		16	37	16	37	---	---	---	---
FLYWCH2	114984	broad.mit.edu	37	16	2946558	2946558	+	Silent	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr16:2946558C>T	ENST00000396958.3	+	3	488	c.108C>T	c.(106-108)ccC>ccT	p.P36P	FLYWCH2_ENST00000293981.6_Silent_p.P36P|FLYWCH2_ENST00000572006.1_Silent_p.P36P	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	36							poly(A) RNA binding (GO:0044822)	p.P36P(2)		central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						CCAGGAAGCCCAGAAAGTTCT	0.642																																						uc002csa.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(106-108)CCC>CCT		FLYWCH family member 2							73.0	84.0	81.0					16																	2946558		2198	4300	6498	SO:0001819	synonymous_variant	114984							g.chr16:2946558C>T	BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.108C>T	16.37:g.2946558C>T						FLYWCH2_uc010uwj.1_Silent_p.P36P|FLYWCH2_uc010uwk.1_Silent_p.P36P	p.P36P	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN			3	479	+			36						Silent	SNP	ENST00000396958.3	37	c.108C>T	CCDS10482.1																																																																																				PASS	0.642	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250944.1	NM_138439		15	75	15	75	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	10996609	10996609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr16:10996609G>A	ENST00000324288.8	+	8	856	c.723G>A	c.(721-723)tgG>tgA	p.W241*	CIITA_ENST00000381835.5_Nonsense_Mutation_p.W192*|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	241					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.W241*(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ATGGGCTCTGGCAAATCTCTG	0.582			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(721-723)TGG>TGA		class II transactivator							104.0	97.0	99.0					16																	10996609		2197	4300	6497	SO:0001587	stop_gained	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10996609G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.723G>A	16.37:g.10996609G>A	ENSP00000316328:p.Trp241*					CIITA_uc002daj.3_Nonsense_Mutation_p.W242*|CIITA_uc002dak.3_Nonsense_Mutation_p.W192*|CIITA_uc002dag.2_Nonsense_Mutation_p.W241*|CIITA_uc002dah.2_Nonsense_Mutation_p.W193*|CIITA_uc010bup.1_Nonsense_Mutation_p.W241*	p.W241*	NM_000246	NP_000237	P33076	C2TA_HUMAN			8	856	+			241					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Nonsense_Mutation	SNP	ENST00000324288.8	37	c.723G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957536	0.53400	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	.	.	.	4.86	2.75	0.32379	.	0.713481	0.11945	N	0.514252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.251	0.20845	0.0:0.2529:0.5566:0.1905	.	.	.	.	X	241;192;193;241	.	ENSP00000316328:W241X	W	+	3	0	CIITA	10904110	0.997000	0.39634	0.994000	0.49952	0.186000	0.23388	0.613000	0.24299	0.989000	0.38761	0.563000	0.77884	TGG		PASS	0.582	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		10	51	10	51	---	---	---	---
RRN3	54700	broad.mit.edu	37	16	15180227	15180227	+	Missense_Mutation	SNP	T	T	C	rs567466622		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr16:15180227T>C	ENST00000198767.6	-	4	420	c.337A>G	c.(337-339)Ata>Gta	p.I113V	RRN3_ENST00000429751.2_Intron|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000564131.1_Missense_Mutation_p.I113V|RRN3_ENST00000327307.7_Missense_Mutation_p.I80V|RRN3_ENST00000563559.1_Missense_Mutation_p.I113V|RRN3_ENST00000540462.1_5'UTR	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	113					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.I113V(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTTACTAATATAATACTGATA	0.299													.|||	1	0.000199681	0.0	0.0	5008	,	,		18297	0.0		0.001	False		,,,				2504	0.0					uc002dde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)ATA>GTA		RRN3 RNA polymerase I transcription factor							58.0	64.0	62.0					16																	15180227		2195	4288	6483	SO:0001583	missense	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15180227T>C	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.337A>G	16.37:g.15180227T>C	ENSP00000198767:p.Ile113Val					PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.I14V|RRN3_uc010uzq.1_Intron|RRN3_uc002ddf.1_Missense_Mutation_p.I113V	p.I113V	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN			4	405	-			113					A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	c.337A>G	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326415	0.05350	.	.	ENSG00000085721	ENST00000198767;ENST00000327307	T;T	0.48836	0.8;0.8	4.46	-4.17	0.03857	.	0.379910	0.21706	U	0.070350	T	0.15219	0.0367	N	0.05592	-0.015	0.37906	D	0.931207	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.14578	0.003;0.011;0.003	T	0.16129	-1.0413	10	0.10902	T	0.67	.	0.3111	0.00288	0.3423:0.2323:0.135:0.2904	.	14;113;113	B4DZL9;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	V	113;80	ENSP00000198767:I113V;ENSP00000318484:I80V	ENSP00000198767:I113V	I	-	1	0	RRN3	15087728	0.177000	0.23109	0.000000	0.03702	0.832000	0.47134	0.090000	0.15025	-0.565000	0.06061	0.379000	0.24179	ATA		PASS	0.299	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		12	40	12	40	---	---	---	---
ANKS4B	257629	broad.mit.edu	37	16	21245162	21245162	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr16:21245162C>A	ENST00000311620.5	+	1	177	c.104C>A	c.(103-105)cCt>cAt	p.P35H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	35					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.P35H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GGCATGACTCCTACTCTCTTG	0.463																																						uc010bwp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(103-105)CCT>CAT		harmonin-interacting ankyrin-repeat containing							151.0	146.0	147.0					16																	21245162		1918	4127	6045	SO:0001583	missense	257629							g.chr16:21245162C>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.104C>A	16.37:g.21245162C>A	ENSP00000308772:p.Pro35His						p.P35H	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	1	147	+			35			ANK 1.			Missense_Mutation	SNP	ENST00000311620.5	37	c.104C>A	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758709	0.89843	.	.	ENSG00000175311	ENST00000311620	T	0.74421	-0.84	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87571	0.2478	10	0.72032	D	0.01	-13.1229	17.939	0.89021	0.0:1.0:0.0:0.0	.	35	Q8N8V4	ANS4B_HUMAN	H	35	ENSP00000308772:P35H	ENSP00000308772:P35H	P	+	2	0	ANKS4B	21152663	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.763000	0.85283	2.462000	0.83206	0.655000	0.94253	CCT		PASS	0.463	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		7	168	7	168	---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23695281	23695281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr16:23695281G>T	ENST00000300093.4	+	5	1018	c.907G>T	c.(907-909)Gag>Tag	p.E303*		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.E303*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GCTTAATGACGAGTTCTTTAC	0.567																																					Colon(12;240 564 27038 33155)	uc002dlz.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|skin(1)	2						c.(907-909)GAG>TAG		polo-like kinase 1							213.0	218.0	216.0					16																	23695281		2197	4300	6497	SO:0001587	stop_gained	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23695281G>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.907G>T	16.37:g.23695281G>T	ENSP00000300093:p.Glu303*						p.E303*	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	960	+			303			Protein kinase.		Q15153|Q99746	Nonsense_Mutation	SNP	ENST00000300093.4	37	c.907G>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267372	0.97426	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-29.4321	16.7529	0.85490	0.0:0.0:1.0:0.0	.	.	.	.	X	303;206	.	ENSP00000300093:E303X	E	+	1	0	PLK1	23602782	1.000000	0.71417	0.997000	0.53966	0.603000	0.37013	9.069000	0.93967	2.631000	0.89168	0.655000	0.94253	GAG		PASS	0.567	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		6	280	6	280	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30745064	30745064	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr16:30745064C>A	ENST00000262518.4	+	29	6824	c.6439C>A	c.(6439-6441)Cag>Aag	p.Q2147K	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q2085K|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q1989K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2147	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.Q2147K(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CATGGATGCTCAGGCCCAGGA	0.527																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(6439-6441)CAG>AAG		Snf2-related CBP activator protein							118.0	120.0	119.0					16																	30745064		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30745064C>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6439C>A	16.37:g.30745064C>A	ENSP00000262518:p.Gln2147Lys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Q1942K	p.Q2147K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		29	6824	+			2147			Helicase C-terminal.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6439C>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761481	0.49468	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.85955	-2.05;-2.05;-2.05	4.82	4.82	0.62117	Helicase, C-terminal (3);	0.000000	0.42682	D	0.000669	D	0.94735	0.8301	H	0.96365	3.81	0.42617	D	0.993333	D;D	0.76494	0.998;0.999	D;D	0.81914	0.991;0.995	D	0.95759	0.8799	10	0.49607	T	0.09	-10.851	16.8447	0.85977	0.0:1.0:0.0:0.0	.	2085;2147	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	2147;2085;1989	ENSP00000262518:Q2147K;ENSP00000378499:Q2085K;ENSP00000343042:Q1989K	ENSP00000262518:Q2147K	Q	+	1	0	SRCAP	30652565	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.222000	0.51223	2.485000	0.83878	0.563000	0.77884	CAG		PASS	0.527	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		15	50	15	50	---	---	---	---
FAM192A	80011	broad.mit.edu	37	16	57207687	57207687	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr16:57207687C>A	ENST00000309137.8	-	2	338	c.80G>T	c.(79-81)aGg>aTg	p.R27M	FAM192A_ENST00000389447.5_Missense_Mutation_p.R27M|FAM192A_ENST00000569266.1_Missense_Mutation_p.R27M|FAM192A_ENST00000566077.1_De_novo_Start_InFrame|FAM192A_ENST00000567439.1_Missense_Mutation_p.R27M|FAM192A_ENST00000564108.1_Missense_Mutation_p.R27M	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	27						nucleus (GO:0005634)		p.R27M(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTCTTGCCTCCTTTTGCGCCG	0.423																																						uc010vhk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)AGG>ATG		NEFA-interacting nuclear protein NIP30							207.0	186.0	193.0					16																	57207687		1913	4143	6056	SO:0001583	missense	80011					nucleus		g.chr16:57207687C>A		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.80G>T	16.37:g.57207687C>A	ENSP00000335808:p.Arg27Met					FAM192A_uc002ekz.3_Missense_Mutation_p.R27M|FAM192A_uc002ekv.3_Translation_Start_Site|FAM192A_uc002ekw.3_Missense_Mutation_p.R27M|FAM192A_uc002ekx.3_Missense_Mutation_p.R27M|FAM192A_uc002eky.3_Missense_Mutation_p.R27M|FAM192A_uc010ccx.2_Missense_Mutation_p.R27M	p.R27M	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN			2	339	-			27						Missense_Mutation	SNP	ENST00000309137.8	37	c.80G>T	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062517	0.76187	.	.	ENSG00000172775	ENST00000309137;ENST00000389447;ENST00000538505	.	.	.	5.13	3.14	0.36123	NEFA-interacting nuclear protein NIP30, N-terminal (1);	0.361253	0.35838	N	0.002943	T	0.48314	0.1493	L	0.27053	0.805	0.45330	D	0.998322	P;P;D	0.55385	0.801;0.891;0.971	P;B;P	0.53988	0.653;0.347;0.739	T	0.44436	-0.9328	9	0.44086	T	0.13	-32.397	9.7818	0.40653	0.0:0.7769:0.0:0.2231	.	27;27;27	Q6P4H7;F5GY57;Q9GZU8	.;.;F192A_HUMAN	M	27	.	ENSP00000335808:R27M	R	-	2	0	FAM192A	55765188	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.213000	0.42844	1.300000	0.44818	-0.140000	0.14226	AGG		PASS	0.423	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		7	80	7	80	---	---	---	---
JPH3	57338	broad.mit.edu	37	16	87723839	87723839	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr16:87723839C>T	ENST00000284262.2	+	4	2115	c.1873C>T	c.(1873-1875)Ccc>Tcc	p.P625S	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	625					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.P625S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGAGACGCATCCCCAGAAAAG	0.657																																						uc002fkd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1873-1875)CCC>TCC		junctophilin 3							15.0	16.0	15.0					16																	87723839		2175	4289	6464	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87723839C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1873C>T	16.37:g.87723839C>T	ENSP00000284262:p.Pro625Ser					JPH3_uc010vou.1_RNA	p.P625S	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	4	2127	+			625			Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.1873C>T	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236278	0.22626	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.39592	1.07	3.91	1.76	0.24704	.	0.540563	0.19263	N	0.118611	T	0.20414	0.0491	N	0.14661	0.345	0.28100	N	0.931433	B	0.09022	0.002	B	0.09377	0.004	T	0.08126	-1.0737	10	0.23891	T	0.37	.	5.8284	0.18566	0.4114:0.4379:0.1507:0.0	.	625	Q8WXH2	JPH3_HUMAN	S	488;625	ENSP00000284262:P625S	ENSP00000284262:P625S	P	+	1	0	JPH3	86281340	0.950000	0.32346	1.000000	0.80357	0.726000	0.41606	0.623000	0.24447	1.911000	0.55334	0.655000	0.94253	CCC		PASS	0.657	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			4	8	4	8	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5421068	5421068	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:5421068G>T	ENST00000572272.1	-	15	4054	c.4055C>A	c.(4054-4056)cCa>cAa	p.P1352Q	NLRP1_ENST00000354411.3_Missense_Mutation_p.P1322Q|NLRP1_ENST00000262467.5_Missense_Mutation_p.P1356Q|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1278Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1308Q|NLRP1_ENST00000345221.3_Missense_Mutation_p.P1308Q			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1352					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.P1352Q(2)|p.P1356Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGATTTACCTGGTTTCACCAA	0.507																																						uc002gci.2																			3	Substitution - Missense(3)		lung(3)	lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(4054-4056)CCA>CAA		NLR family, pyrin domain containing 1 isoform 1							134.0	122.0	126.0					17																	5421068		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5421068G>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4055C>A	17.37:g.5421068G>T	ENSP00000460475:p.Pro1352Gln					NLRP1_uc002gcg.1_Missense_Mutation_p.P1356Q|NLRP1_uc002gck.2_Missense_Mutation_p.P1308Q|NLRP1_uc002gcj.2_Missense_Mutation_p.P1322Q|NLRP1_uc002gcl.2_Missense_Mutation_p.P1278Q|NLRP1_uc002gch.3_Missense_Mutation_p.P1308Q	p.P1352Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			15	4610	-		Colorectal(1115;3.48e-05)	1352					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.4055C>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898658	0.33535	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.07	0.727	0.18254	.	0.463986	0.16174	N	0.226180	T	0.35189	0.0923	M	0.69248	2.105	0.24325	N	0.995029	D;D;D;D;D	0.71674	0.997;0.997;0.998;0.997;0.998	D;D;D;D;D	0.71414	0.954;0.954;0.973;0.954;0.973	T	0.12091	-1.0561	10	0.87932	D	0	.	3.4714	0.07569	0.1028:0.1658:0.5606:0.1708	.	1278;1322;1352;1308;1356	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	Q	1356;1356;1352;1322;1308	ENSP00000442029:P1356Q;ENSP00000262467:P1356Q;ENSP00000346390:P1322Q;ENSP00000324366:P1308Q	ENSP00000262467:P1356Q	P	-	2	0	NLRP1	5361792	0.976000	0.34144	0.081000	0.20488	0.394000	0.30568	0.987000	0.29603	0.101000	0.17610	-0.324000	0.08512	CCA		PASS	0.507	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		5	69	5	69	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7224163	7224163	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:7224163C>A	ENST00000399464.2	-	21	3455	c.3440G>T	c.(3439-3441)gGg>gTg	p.G1147V	NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.G1123V|NEURL4_ENST00000315614.7_Missense_Mutation_p.G1145V|RP11-542C16.2_ENST00000575474.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1147	NHR 6. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G1145V(1)|p.G1147V(1)		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						CGTACGGTTCCCATTAGACAA	0.562																																						uc002gga.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(3439-3441)GGG>GTG		neuralized homolog 4 isoform 1							158.0	159.0	159.0					17																	7224163		1935	4145	6080	SO:0001583	missense	84461						protein binding	g.chr17:7224163C>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.3440G>T	17.37:g.7224163C>A	ENSP00000382390:p.Gly1147Val					NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.G1145V	p.G1147V	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			21	3447	-			1147			NHR 6.		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.3440G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627664	0.66901	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.31769	1.48;1.48	5.13	5.13	0.70059	NEUZ (3);	0.128480	0.53938	D	0.000051	T	0.44008	0.1273	L	0.58101	1.795	0.54753	D	0.999989	P;P	0.49307	0.904;0.922	P;P	0.51055	0.525;0.657	T	0.38908	-0.9639	10	0.56958	D	0.05	-22.5396	17.3441	0.87305	0.0:1.0:0.0:0.0	.	1145;1147	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	V	1145;1147	ENSP00000319826:G1145V;ENSP00000382390:G1147V	ENSP00000319826:G1145V	G	-	2	0	NEURL4	7164887	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.065000	0.57513	2.387000	0.81309	0.462000	0.41574	GGG		PASS	0.562	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		7	150	7	150	---	---	---	---
EIF4A1	1973	broad.mit.edu	37	17	7480801	7480801	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:7480801G>T	ENST00000293831.8	+	7	780	c.764G>T	c.(763-765)cGa>cTa	p.R255L	CD68_ENST00000250092.6_5'Flank|CD68_ENST00000380498.6_5'Flank|EIF4A1_ENST00000582746.1_Missense_Mutation_p.R255L|SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R255L|SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	255	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R255L(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AACGTGGAACGAGAGGTGGGG	0.557																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(763-765)CGA>CTA		eukaryotic translation initiation factor 4A							60.0	52.0	55.0					17																	7480801		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480801G>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.764G>T	17.37:g.7480801G>T	ENSP00000293831:p.Arg255Leu					EIF4A1_uc002ghr.1_Missense_Mutation_p.R255L|EIF4A1_uc002ghq.1_Missense_Mutation_p.R255L|EIF4A1_uc002ghp.1_Missense_Mutation_p.R255L|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	p.R255L	NM_001416	NP_001407	P60842	IF4A1_HUMAN			15	2089	+			255			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.764G>T	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208363	0.39003	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.04654	3.58	5.16	5.16	0.70880	Helicase, C-terminal (1);	0.060757	0.64402	D	0.000004	T	0.05227	0.0139	N	0.21508	0.67	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.10450	0.002;0.005;0.001	T	0.38585	-0.9654	10	0.66056	D	0.02	-28.1231	16.1373	0.81494	0.0:0.0:1.0:0.0	.	255;255;255	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	L	255;78	ENSP00000293831:R255L	ENSP00000293831:R255L	R	+	2	0	EIF4A1	7421525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.825000	0.62708	2.411000	0.81874	0.491000	0.48974	CGA		PASS	0.557	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		4	39	4	39	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	rs138729528		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:7578407G>C	ENST00000269305.4	-	5	712	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000420246.2_Missense_Mutation_p.R175G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGGGGCAGCGCCTCACAACC	0.657		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM011013	TP53	M	rs138729528	c.(523-525)CGC>GGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578407		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578407G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.523C>G	17.37:g.7578407G>C	ENSP00000269305:p.Arg175Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G	p.R175G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	717	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.523C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570086	0.65765	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99862	0.9935	M	0.92784	3.345	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.987;1.0;0.999;0.992;0.975;1.0	D	0.98196	1.0465	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175G;ENSP00000352610:R175G;ENSP00000269305:R175G;ENSP00000398846:R175G;ENSP00000391127:R175G;ENSP00000391478:R175G;ENSP00000425104:R43G;ENSP00000423862:R82G	ENSP00000269305:R175G	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC		PASS	0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	25	10	25	---	---	---	---
SCO1	6341	broad.mit.edu	37	17	10596167	10596167	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:10596167C>A	ENST00000255390.5	-	3	536	c.476G>T	c.(475-477)tGg>tTg	p.W159L	SCO1_ENST00000582053.1_5'Flank|SCO1_ENST00000577427.1_Intron	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	159					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)	p.W159L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						AATCAATAACCACTGACCCAA	0.458																																					Melanoma(128;591 1731 19711 31891 44645)	uc002gmr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)TGG>TTG		cytochrome oxidase deficient homolog 1							125.0	107.0	113.0					17																	10596167		2203	4300	6503	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10596167C>A	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.476G>T	17.37:g.10596167C>A	ENSP00000255390:p.Trp159Leu					SCO1_uc002gms.3_Intron	p.W159L	NM_004589	NP_004580	O75880	SCO1_HUMAN			3	537	-			159					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.476G>T	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292040	0.95546	.	.	ENSG00000133028	ENST00000255390	D	0.91521	-2.86	6.08	6.08	0.98989	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.95072	0.8404	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93763	0.7068	10	0.46703	T	0.11	-18.403	20.6721	0.99693	0.0:1.0:0.0:0.0	.	159	O75880	SCO1_HUMAN	L	159	ENSP00000255390:W159L	ENSP00000255390:W159L	W	-	2	0	SCO1	10536892	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.461000	0.80834	2.894000	0.99253	0.591000	0.81541	TGG		PASS	0.458	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		5	56	5	56	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18023401	18023401	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:18023401G>A	ENST00000205890.5	+	2	1625	c.1287G>A	c.(1285-1287)atG>atA	p.M429I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	429					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.M429I(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCACGCCATGGATGACATCG	0.652																																						uc010vxh.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(1285-1287)ATG>ATA		myosin XV							47.0	54.0	52.0					17																	18023401		2121	4208	6329	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023401G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1287G>A	17.37:g.18023401G>A	ENSP00000205890:p.Met429Ile						p.M429I	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	1625	+	all_neural(463;0.228)		429			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1287G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216360	0.39201	.	.	ENSG00000091536	ENST00000205890	T	0.39787	1.06	5.4	4.41	0.53225	.	.	.	.	.	T	0.33673	0.0871	L	0.32530	0.975	0.80722	D	1	B	0.21753	0.06	B	0.14023	0.01	T	0.15178	-1.0446	9	0.87932	D	0	.	13.265	0.60128	0.0:0.0:0.841:0.159	.	429	Q9UKN7	MYO15_HUMAN	I	429	ENSP00000205890:M429I	ENSP00000205890:M429I	M	+	3	0	MYO15A	17964126	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	3.738000	0.55067	1.238000	0.43771	0.561000	0.74099	ATG		PASS	0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		17	21	17	21	---	---	---	---
CCDC144NL	339184	broad.mit.edu	37	17	20799191	20799191	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:20799191C>A	ENST00000327925.5	-	1	262	c.143G>T	c.(142-144)gGc>gTc	p.G48V	RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	48								p.G48V(1)		large_intestine(3)|lung(3)|skin(1)	7						GTAGGAGAAGCCCAAGGACCA	0.617																																						uc002gyf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GGC>GTC		coiled-coil domain containing 144 family,							75.0	75.0	75.0					17																	20799191		2203	4300	6503	SO:0001583	missense	339184							g.chr17:20799191C>A		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.143G>T	17.37:g.20799191C>A	ENSP00000328054:p.Gly48Val					uc002gyg.1_Intron|uc002gyh.1_Intron	p.G48V	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN			1	263	-			48						Missense_Mutation	SNP	ENST00000327925.5	37	c.143G>T	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	c	9.806	1.181931	0.21787	.	.	ENSG00000205212	ENST00000327925	T	0.21191	2.02	.	.	.	.	.	.	.	.	T	0.15912	0.0383	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	P	0.48840	0.592	T	0.16129	-1.0413	7	0.87932	D	0	.	.	.	.	.	48	Q6NUI1	C144L_HUMAN	V	48	ENSP00000328054:G48V	ENSP00000328054:G48V	G	-	2	0	CCDC144NL	20739783	0.001000	0.12720	0.007000	0.13788	0.000000	0.00434	-1.312000	0.02720	0.000000	0.14550	0.000000	0.15137	GGC		PASS	0.617	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		19	64	19	64	---	---	---	---
MMP28	79148	broad.mit.edu	37	17	34100371	34100371	+	IGR	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:34100371C>A								C17orf50 (8273 upstream) : MMP28 (5137 downstream)														p.L139L(1)									GCCAGTTCACCAGGCGGTAGG	0.637																																						uc002hjy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(415-417)CTG>CTT		matrix metalloproteinase 28 isoform 1							26.0	34.0	31.0					17																	34100371		2183	4290	6473	SO:0001628	intergenic_variant	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34100371C>A																													17.37:g.34100371C>A						MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	p.L139L	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	676	-		Ovarian(249;0.17)	139						Silent	SNP		37	c.417G>T																																																																																				0	PASS	0.637									5	2	5	2	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34937844	34937844	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:34937844G>T	ENST00000304718.4	+	9	1407	c.1091G>T	c.(1090-1092)cGa>cTa	p.R364L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	364					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.R364L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAAGAGGAACGAGTAAGAGAA	0.368																																						uc002hnb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1090-1092)CGA>CTA		zinc finger protein 403							118.0	114.0	115.0					17																	34937844		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34937844G>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1091G>T	17.37:g.34937844G>T	ENSP00000307617:p.Arg364Leu					GGNBP2_uc002hna.2_Missense_Mutation_p.R364L|GGNBP2_uc002hnc.1_Missense_Mutation_p.R193L	p.R364L	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	9	1340	+		Breast(25;0.00957)|Ovarian(249;0.17)	364					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1091G>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783375	0.49891	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	4.52	0.55395	.	0.056880	0.64402	D	0.000002	T	0.45796	0.1360	L	0.27053	0.805	0.80722	D	1	D;D;P	0.56287	0.975;0.975;0.901	P;P;P	0.50896	0.653;0.653;0.475	T	0.30149	-0.9988	9	0.28530	T	0.3	-5.5206	9.9408	0.41578	0.0721:0.1398:0.788:0.0	.	364;364;364	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	L	364	.	ENSP00000307617:R364L	R	+	2	0	GGNBP2	32011957	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	6.015000	0.70791	1.323000	0.45263	-0.334000	0.08254	CGA		PASS	0.368	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		4	83	4	83	---	---	---	---
KRT9	3857	broad.mit.edu	37	17	39724766	39724766	+	Silent	SNP	G	G	T	rs139934315		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:39724766G>T	ENST00000246662.4	-	5	1229	c.1164C>A	c.(1162-1164)ctC>ctA	p.L388L	KRT9_ENST00000588431.1_Silent_p.L155L	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	388	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.L388L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CAACCTTGCTGAGCTGAGACT	0.552																																						uc002hxe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1162-1164)CTC>CTA		keratin 9							249.0	240.0	243.0					17																	39724766		2203	4300	6503	SO:0001819	synonymous_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724766G>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1164C>A	17.37:g.39724766G>T						JUP_uc010wfs.1_Intron	p.L388L	NM_000226	NP_000217	P35527	K1C9_HUMAN			5	1230	-		Breast(137;0.000307)	388			Rod.|Coil 2.		O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	c.1164C>A	CCDS32654.1																																																																																				PASS	0.552	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		7	239	7	239	---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41103875	41103875	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:41103875C>G	ENST00000427569.2	-	11	1080	c.1045G>C	c.(1045-1047)Ggt>Cgt	p.G349R	PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.G432R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.G462R|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.G523R|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.G523R	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	349					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)	p.G462R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AGTCCACCACCTTTCTCATCG	0.522																																						uc002icc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1045-1047)GGT>CGT		alanyl-tRNA synthetase domain containing 1							77.0	67.0	70.0					17																	41103875		2203	4300	6503	SO:0001583	missense	80755				alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding	g.chr17:41103875C>G	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.1045G>C	17.37:g.41103875C>G	ENSP00000400870:p.Gly349Arg					AARSD1_uc002icd.2_Missense_Mutation_p.G462R|AARSD1_uc002ice.2_Missense_Mutation_p.G432R|AARSD1_uc002icf.2_Missense_Mutation_p.G523R|AARSD1_uc010whg.1_Missense_Mutation_p.G523R	p.G349R	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	11	1048	-		Breast(137;0.00499)	349					B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.1045G>C	CCDS58552.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392827	0.62066	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	T;T	0.47869	0.83;0.83	5.23	5.23	0.72850	.	0.065906	0.64402	D	0.000011	T	0.67306	0.2879	M	0.87180	2.865	0.36997	D	0.895088	P;D;D;B	0.62365	0.956;0.975;0.991;0.37	P;P;P;B	0.59595	0.671;0.793;0.86;0.175	T	0.77451	-0.2583	9	0.48119	T	0.1	-12.2023	12.1907	0.54270	0.0:0.9221:0.0:0.0779	.	523;432;480;349	B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;AASD1_HUMAN	R	462;523;523;349;432	ENSP00000386621:G523R;ENSP00000409924:G523R	ENSP00000353355:G462R	G	-	1	0	AARSD1	38357401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.026000	0.64103	2.437000	0.82529	0.655000	0.94253	GGT		PASS	0.522	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		15	19	15	19	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247485	56247485	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:56247485A>C	ENST00000545221.1	+	1	469	c.469A>C	c.(469-471)Att>Ctt	p.I157L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I157L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGTCCACTCTATTGTCCAGCT	0.567																																						uc010wnp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(469-471)ATT>CTT		olfactory receptor, family 4, subfamily D,							125.0	115.0	118.0					17																	56247485		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247485A>C		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.469A>C	17.37:g.56247485A>C	ENSP00000441354:p.Ile157Leu						p.I157L	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	469	+			157			Helical; Name=4; (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.469A>C	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703684	0.48412	.	.	ENSG00000255713	ENST00000545221	T	0.00019	9.06	5.71	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.00109	0.0003	N	0.16656	0.425	0.29471	N	0.857021	P	0.37663	0.604	B	0.41666	0.363	T	0.32851	-0.9891	10	0.25106	T	0.35	-12.8167	10.0917	0.42451	0.9204:0.0:0.0796:0.0	.	157	P58180	OR4D2_HUMAN	L	157	ENSP00000441354:I157L	ENSP00000441354:I157L	I	+	1	0	OR4D2	53602484	0.011000	0.17503	0.979000	0.43373	0.827000	0.46813	1.506000	0.35747	1.106000	0.41623	-0.314000	0.08810	ATT		PASS	0.567	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			14	54	14	54	---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77925290	77925290	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:77925290G>T	ENST00000310924.2	-	5	1163	c.1048C>A	c.(1048-1050)Cag>Aag	p.Q350K	TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000576768.1_5'Flank|TBC1D16_ENST00000570373.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	350							Rab GTPase activator activity (GO:0005097)	p.Q350K(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TTCCACTGCTGGAACACGTCA	0.632																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)CAG>AAG		TBC1 domain family, member 16							95.0	89.0	91.0					17																	77925290		2203	4300	6503	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77925290G>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1048C>A	17.37:g.77925290G>T	ENSP00000309794:p.Gln350Lys					TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	p.Q350K	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		5	1164	-	all_neural(118;0.167)		350					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1048C>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295833	0.81025	.	.	ENSG00000167291	ENST00000310924	T	0.08546	3.08	5.36	5.36	0.76844	.	0.109062	0.64402	D	0.000005	T	0.15522	0.0374	M	0.68317	2.08	0.80722	D	1	B	0.30793	0.295	B	0.33521	0.165	T	0.01652	-1.1303	10	0.51188	T	0.08	-43.2448	19.0937	0.93240	0.0:0.0:1.0:0.0	.	350	Q8TBP0	TBC16_HUMAN	K	350	ENSP00000309794:Q350K	ENSP00000309794:Q350K	Q	-	1	0	TBC1D16	75539885	1.000000	0.71417	0.979000	0.43373	0.875000	0.50365	9.434000	0.97515	2.495000	0.84180	0.655000	0.94253	CAG		PASS	0.632	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		5	79	5	79	---	---	---	---
METTL4	64863	broad.mit.edu	37	18	2539011	2539011	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr18:2539011C>A	ENST00000574538.1	-	9	2182	c.1407G>T	c.(1405-1407)gaG>gaT	p.E469D	METTL4_ENST00000319888.6_3'UTR	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	469					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.E469D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGCTTCCAGACTCCACAGCAA	0.353																																						uc002klh.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(1405-1407)GAG>GAT		methyltransferase like 4							87.0	86.0	87.0					18																	2539011		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2539011C>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1407G>T	18.37:g.2539011C>A	ENSP00000458290:p.Glu469Asp					METTL4_uc010dkj.2_3'UTR	p.E469D	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN			9	2187	-			469					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.1407G>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412609	0.25465	.	.	ENSG00000101574	ENST00000319888	.	.	.	5.29	1.5	0.22942	.	0.678333	0.14596	N	0.309942	T	0.27134	0.0665	L	0.36672	1.1	0.21325	N	0.999726	B	0.06786	0.001	B	0.04013	0.001	T	0.19128	-1.0315	9	0.27082	T	0.32	-1.3901	4.3585	0.11190	0.272:0.5126:0.0:0.2154	.	469	Q8N3J2	METL4_HUMAN	D	469	.	ENSP00000320349:E469D	E	-	3	2	METTL4	2529011	0.250000	0.23951	0.954000	0.39281	0.885000	0.51271	0.292000	0.19011	-0.008000	0.14320	0.655000	0.94253	GAG		PASS	0.353	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		14	40	14	40	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30350180	30350180	+	Silent	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr18:30350180C>A	ENST00000359358.4	-	2	813	c.375G>T	c.(373-375)ctG>ctT	p.L125L	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.L125L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	125	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.L125L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCTGCAGCACCAGGTTGTTGA	0.677																																						uc002kxm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(373-375)CTG>CTT		kelch-like 14							78.0	85.0	82.0					18																	30350180		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350180C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.375G>T	18.37:g.30350180C>A							p.L125L	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	763	-			125			BTB.		A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.375G>T	CCDS32813.1																																																																																				PASS	0.677	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			5	64	5	64	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr18:32438301C>G	ENST00000399113.3	+	15	1504	c.1504C>G	c.(1504-1506)Cag>Gag	p.Q502E	DTNA_ENST00000601125.1_Missense_Mutation_p.Q124E|DTNA_ENST00000595022.1_Missense_Mutation_p.Q442E|DTNA_ENST00000283365.9_Missense_Mutation_p.Q445E|DTNA_ENST00000598774.1_Missense_Mutation_p.Q445E|DTNA_ENST00000591182.1_Missense_Mutation_p.Q150E|DTNA_ENST00000444659.1_Missense_Mutation_p.Q502E|DTNA_ENST00000399097.3_Missense_Mutation_p.Q150E|DTNA_ENST00000597599.1_Missense_Mutation_p.Q442E|DTNA_ENST00000556414.3_Missense_Mutation_p.Q154E|DTNA_ENST00000269190.7_Missense_Mutation_p.Q503E|DTNA_ENST00000399121.5_Missense_Mutation_p.Q442E|DTNA_ENST00000269191.6_Missense_Mutation_p.Q502E|DTNA_ENST00000598334.1_Missense_Mutation_p.Q442E|DTNA_ENST00000269192.7_Missense_Mutation_p.Q211E|DTNA_ENST00000599844.1_Missense_Mutation_p.Q124E|DTNA_ENST00000348997.5_Missense_Mutation_p.Q499E|DTNA_ENST00000598142.1_Missense_Mutation_p.Q445E|DTNA_ENST00000596745.1_Missense_Mutation_p.Q252E|DTNA_ENST00000597674.1_Missense_Mutation_p.Q124E			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512																																						uc010dmn.1																			6	Substitution - Missense(3)|Substitution - Nonsense(3)		lung(6)		0						c.(1504-1506)CAG>GAG		dystrobrevin alpha isoform 1							67.0	65.0	66.0					18																	32438301		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438301C>G	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1504C>G	18.37:g.32438301C>G	ENSP00000382064:p.Gln502Glu					DTNA_uc010xbx.1_Missense_Mutation_p.Q252E|DTNA_uc002kxv.3_Missense_Mutation_p.Q445E|DTNA_uc002kxw.2_Missense_Mutation_p.Q445E|DTNA_uc010dmj.2_Missense_Mutation_p.Q442E|DTNA_uc002kxz.2_Missense_Mutation_p.Q442E|DTNA_uc002kxy.2_Missense_Mutation_p.Q442E|DTNA_uc010dml.2_Missense_Mutation_p.Q442E|DTNA_uc002kyb.3_Missense_Mutation_p.Q499E|DTNA_uc010dmm.2_Missense_Mutation_p.Q502E|DTNA_uc010xby.1_Missense_Mutation_p.Q192E|DTNA_uc010dmo.2_Missense_Mutation_p.Q124E|DTNA_uc002kyd.3_Missense_Mutation_p.Q124E|DTNA_uc010xbz.1_Missense_Mutation_p.Q211E|DTNA_uc010xca.1_Missense_Mutation_p.Q154E|DTNA_uc002kye.2_Missense_Mutation_p.Q150E	p.Q502E	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			15	1505	+			502			Potential.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1504C>G	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874281	0.91664	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.18174	2.23;2.25;2.28;2.25;2.28;2.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	L	0.56769	1.78	0.80722	D	1	P;D;P;D;D;D;D;B;P;P;D;B;P;P;P	0.61080	0.56;0.984;0.891;0.978;0.989;0.964;0.979;0.228;0.928;0.945;0.979;0.124;0.877;0.859;0.954	P;D;P;P;D;D;D;B;P;D;D;B;P;P;D	0.77004	0.5;0.915;0.814;0.766;0.989;0.974;0.989;0.046;0.672;0.939;0.989;0.148;0.546;0.492;0.932	T	0.05007	-1.0912	10	0.48119	T	0.1	-15.8894	19.4422	0.94825	0.0:1.0:0.0:0.0	.	154;211;192;252;124;502;502;442;445;150;499;442;453;445;445	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	E	445;445;442;503;150;499;502;502;502;502;211;150;154	ENSP00000283365:Q445E;ENSP00000269190:Q503E;ENSP00000336682:Q499E;ENSP00000405819:Q502E;ENSP00000269191:Q502E;ENSP00000382064:Q502E	ENSP00000269190:Q503E	Q	+	1	0	DTNA	30692299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.612000	0.88384	0.650000	0.86243	CAG		PASS	0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		20	22	20	22	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56149153	56149153	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr18:56149153T>A	ENST00000361673.3	-	13	6628	c.6415A>T	c.(6415-6417)Aaa>Taa	p.K2139*		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2139						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K2139*(1)|p.K1500*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGCTTCTGTTTCTGGTTGTTG	0.428																																						uc002lhj.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(6415-6417)AAA>TAA		heart alpha-kinase							172.0	158.0	163.0					18																	56149153		2203	4300	6503	SO:0001587	stop_gained	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56149153T>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6415A>T	18.37:g.56149153T>A	ENSP00000354991:p.Lys2139*						p.K2139*	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			13	6629	-			2139					Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	37	c.6415A>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	46	12.331246	0.99658	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.92	5.92	0.95590	.	0.174939	0.40554	N	0.001077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7806	16.0249	0.80536	0.0:0.0:0.0:1.0	.	.	.	.	X	2139	.	ENSP00000354991:K2139X	K	-	1	0	ALPK2	54300133	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	3.568000	0.53820	2.270000	0.75569	0.459000	0.35465	AAA		PASS	0.428	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		15	41	15	41	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59174738	59174738	+	Missense_Mutation	SNP	C	C	A	rs148517362		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr18:59174738C>A	ENST00000262717.4	+	6	1360	c.962C>A	c.(961-963)gCc>gAc	p.A321D	CDH20_ENST00000536675.2_Missense_Mutation_p.A321D|CDH20_ENST00000538374.1_Missense_Mutation_p.A321D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A321D(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGTGCAGATGCCTTTGACATT	0.423																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(961-963)GCC>GAC		cadherin 20, type 2 preproprotein							177.0	150.0	159.0					18																	59174738		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59174738C>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.962C>A	18.37:g.59174738C>A	ENSP00000262717:p.Ala321Asp					CDH20_uc002lif.2_Missense_Mutation_p.A315D	p.A321D	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			5	974	+		Colorectal(73;0.186)	321			Extracellular (Potential).|Cadherin 3.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.962C>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601604	0.46423	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.52057	0.68;0.68;0.68	5.76	4.89	0.63831	Cadherin (4);Cadherin-like (1);	0.571485	0.20031	N	0.100705	T	0.41581	0.1165	L	0.39326	1.205	0.23320	N	0.997913	B	0.29552	0.248	B	0.37387	0.248	T	0.41770	-0.9490	10	0.54805	T	0.06	.	6.9132	0.24346	0.0:0.7099:0.0:0.2901	.	321	Q9HBT6	CAD20_HUMAN	D	321	ENSP00000444767:A321D;ENSP00000442226:A321D;ENSP00000262717:A321D	ENSP00000262717:A321D	A	+	2	0	CDH20	57325718	0.597000	0.26874	0.827000	0.32855	0.956000	0.61745	2.033000	0.41136	1.431000	0.47355	0.555000	0.69702	GCC		PASS	0.423	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		12	33	12	33	---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5621405	5621405	+	Silent	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:5621405C>T	ENST00000252542.4	-	2	453	c.189G>A	c.(187-189)gcG>gcA	p.A63A	SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000588852.1_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000433404.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	63	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A63A(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTTCTTTAACCGCCTATTAGG	0.443																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(187-189)GCG>GCA		scaffold attachment factor B2							221.0	204.0	209.0					19																	5621405		2203	4300	6503	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5621405C>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.189G>A	19.37:g.5621405C>T						SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_Silent_p.A63A|SAFB2_uc010xip.1_RNA	p.A63A	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	2	401	-			63			SAP.		B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.189G>A	CCDS32879.1																																																																																				PASS	0.443	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		13	397	13	397	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9026256	9026256	+	Nonsense_Mutation	SNP	C	C	A	rs371709616		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:9026256C>A	ENST00000397910.4	-	14	36933	c.36730G>T	c.(36730-36732)Gag>Tag	p.E12244*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12246	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.E12244*(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						ATGTCCTCCTCGTACTGCAGG	0.532																																						uc002mkp.2																			1	Substitution - Nonsense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36730-36732)GAG>TAG		mucin 16							243.0	220.0	227.0					19																	9026256		2069	4213	6282	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9026256C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36730G>T	19.37:g.9026256C>A	ENSP00000381008:p.Glu12244*						p.E12244*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			14	36934	-			12246			SEA 2.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.36730G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	61	55.574211	0.99989	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.58	-2.45	0.06481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.6797	0.28507	0.0:0.6264:0.0:0.3736	.	.	.	.	X	12244	.	ENSP00000381008:E12244X	E	-	1	0	MUC16	8887256	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.893000	0.01609	-0.675000	0.05246	0.195000	0.17529	GAG		PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	180	6	180	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072230	9072230	+	Silent	SNP	G	G	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:9072230G>C	ENST00000397910.4	-	3	15419	c.15216C>G	c.(15214-15216)ctC>ctG	p.L5072L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5074	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.L5072L(2)|p.L705L(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						GGCCAGAGGTGAGAAGTGAAG	0.478																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15214-15216)CTC>CTG		mucin 16							144.0	131.0	135.0					19																	9072230		1928	4133	6061	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072230G>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.15216C>G	19.37:g.9072230G>C							p.L5072L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15420	-			5074			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.15216C>G	CCDS54212.1																																																																																				PASS	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	98	28	98	---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256633	12256633	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:12256633A>C	ENST00000355738.1	-	4	749	c.400T>G	c.(400-402)Ttg>Gtg	p.L134V	ZNF625_ENST00000439556.2_Missense_Mutation_p.L200V|ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Missense_Mutation_p.L134V|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	134					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.L200V(1)|p.L134V(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGACACATCAAGGCTTTCCCA	0.408																																						uc002mth.2																			2	Substitution - Missense(2)		lung(2)		0						c.(400-402)TTG>GTG		zinc finger protein 625							125.0	119.0	121.0					19																	12256633		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256633A>C	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.400T>G	19.37:g.12256633A>C	ENSP00000347977:p.Leu134Val					ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.L168V	p.L134V	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			4	750	-			134			C2H2-type 4.		A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.400T>G		.	.	.	.	.	.	.	.	.	.	A	13.18	2.161404	0.38119	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.08282	3.11;3.11;3.11	1.13	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	N	0.20685	0.6	0.09310	N	0.999996	B;B	0.32409	0.37;0.02	B;B	0.20955	0.032;0.017	T	0.36696	-0.9737	9	0.87932	D	0	.	6.3813	0.21536	1.0:0.0:0.0:0.0	.	134;134	A8K8U0;Q96I27	.;ZN625_HUMAN	V	134;134;200	ENSP00000438436:L134V;ENSP00000347977:L134V;ENSP00000394380:L200V	ENSP00000347977:L134V	L	-	1	2	AC022415.5	12117633	0.034000	0.19679	0.002000	0.10522	0.355000	0.29361	2.177000	0.42509	0.774000	0.33427	0.260000	0.18958	TTG		PASS	0.408	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		39	41	39	41	---	---	---	---
FBXW9	84261	broad.mit.edu	37	19	12800824	12800824	+	Silent	SNP	G	G	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:12800824G>A	ENST00000380339.3	-	6	1110	c.1074C>T	c.(1072-1074)acC>acT	p.T358T	FBXW9_ENST00000587955.1_Silent_p.T348T|FBXW9_ENST00000393261.3_Silent_p.T328T|CTD-2192J16.26_ENST00000593554.1_lincRNA|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000544494.1_Silent_p.T66T			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	358					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.P13L(1)|p.T328T(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCACCACCAGGGTGTGGTCCT	0.682																																						uc010dyx.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(1042-1044)ACC>ACT		F-box and WD-40 domain protein 9							66.0	67.0	67.0					19																	12800824		2203	4300	6503	SO:0001819	synonymous_variant	84261						protein binding	g.chr19:12800824G>A	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1074C>T	19.37:g.12800824G>A						FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Silent_p.T328T|FBXW9_uc002mun.1_Silent_p.T165T	p.T348T	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			6	1044	-			358			WD 4.		B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	37	c.1044C>T																																																																																					PASS	0.682	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		9	18	9	18	---	---	---	---
OR7A17	26333	broad.mit.edu	37	19	14991543	14991543	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:14991543C>G	ENST00000327462.2	-	1	721	c.625G>C	c.(625-627)Ggt>Cgt	p.G209R		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G209R(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ACAAGGGGACCACCAGCCAGC	0.483																																						uc010xob.1																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)GGT>CGT		olfactory receptor, family 7, subfamily A,							73.0	73.0	73.0					19																	14991543		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991543C>G	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.625G>C	19.37:g.14991543C>G	ENSP00000328144:p.Gly209Arg						p.G209R	NM_030901	NP_112163	O14581	OR7AH_HUMAN			1	625	-	Ovarian(108;0.203)		209			Helical; Name=5; (Potential).		Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.625G>C	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	c	10.22	1.290835	0.23564	.	.	ENSG00000185385	ENST00000327462	T	0.37752	1.18	3.28	-5.17	0.02849	GPCR, rhodopsin-like superfamily (1);	0.521986	0.13902	U	0.354828	T	0.49474	0.1559	M	0.83692	2.655	0.09310	N	1	D	0.55385	0.971	D	0.73708	0.981	T	0.39761	-0.9598	10	0.46703	T	0.11	.	2.7839	0.05368	0.3459:0.242:0.0:0.4121	.	209	O14581	OR7AH_HUMAN	R	209	ENSP00000328144:G209R	ENSP00000328144:G209R	G	-	1	0	OR7A17	14852543	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.307000	0.00133	-0.491000	0.06697	-0.411000	0.06167	GGT		PASS	0.483	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		14	50	14	50	---	---	---	---
LPAR2	9170	broad.mit.edu	37	19	19735130	19735130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:19735130C>A	ENST00000542587.1	-	6	1893	c.991G>T	c.(991-993)Gga>Tga	p.G331*	LPAR2_ENST00000586703.1_Nonsense_Mutation_p.G331*|LPAR2_ENST00000407877.3_Nonsense_Mutation_p.G331*			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	331					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)	p.G331*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						CTGGCACCTCCCTGGGCAGAG	0.622																																						uc002nnb.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(991-993)GGA>TGA		lysophosphatidic acid receptor 2							141.0	127.0	132.0					19																	19735130		2203	4300	6503	SO:0001587	stop_gained	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19735130C>A	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.991G>T	19.37:g.19735130C>A	ENSP00000443256:p.Gly331*					LPAR2_uc002nna.3_Nonsense_Mutation_p.G331*|LPAR2_uc002nnc.3_Nonsense_Mutation_p.G331*	p.G331*	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN			3	1130	-			331			Cytoplasmic (Potential).		O00543|O43431	Nonsense_Mutation	SNP	ENST00000542587.1	37	c.991G>T	CCDS12407.1	.	.	.	.	.	.	.	.	.	.	C	40	8.392057	0.98791	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	.	.	.	4.78	-9.56	0.00566	.	1.541090	0.03792	N	0.263031	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.2506	0.06812	0.0916:0.2902:0.3452:0.273	.	.	.	.	X	331	.	ENSP00000384665:G331X	G	-	1	0	LPAR2	19596130	0.010000	0.17322	0.000000	0.03702	0.036000	0.12997	0.859000	0.27858	-1.650000	0.01506	-0.258000	0.10820	GGA		PASS	0.622	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		6	106	6	106	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935742	30935742	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:30935742A>T	ENST00000355537.3	+	2	1420	c.1273A>T	c.(1273-1275)Aac>Tac	p.N425Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	425					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.N425Y(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCCCACGCCAACCTGTACTC	0.637																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1273-1275)AAC>TAC		zinc finger protein 536							35.0	36.0	36.0					19																	30935742		2203	4298	6501	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935742A>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1273A>T	19.37:g.30935742A>T	ENSP00000347730:p.Asn425Tyr					ZNF536_uc010edd.1_Missense_Mutation_p.N425Y	p.N425Y	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1411	+	Esophageal squamous(110;0.0834)		425					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1273A>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.459806	0.26248	.	.	ENSG00000198597	ENST00000355537	T	0.10005	2.92	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.32530	0.975	0.47476	D	0.999437	D;D	0.61080	0.989;0.989	P;P	0.57283	0.817;0.817	T	0.00679	-1.1613	10	0.56958	D	0.05	-30.8461	15.4838	0.75548	1.0:0.0:0.0:0.0	.	425;425	A7E228;O15090	.;ZN536_HUMAN	Y	425	ENSP00000347730:N425Y	ENSP00000347730:N425Y	N	+	1	0	ZNF536	35627582	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	6.327000	0.72910	2.049000	0.60858	0.482000	0.46254	AAC		PASS	0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		8	21	8	21	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41071430	41071430	+	Missense_Mutation	SNP	G	G	C	rs139699793	byFrequency	TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:41071430G>C	ENST00000352632.3	+	28	6103	c.6017G>C	c.(6016-6018)cGa>cCa	p.R2006P	SPTBN4_ENST00000392025.1_Missense_Mutation_p.R749P|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R2006P|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2006P			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2006					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R2006P(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCTGGGGCGATCTCTGCTG	0.632																																						uc002ony.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(6016-6018)CGA>CCA		spectrin, beta, non-erythrocytic 4 isoform							56.0	55.0	55.0					19																	41071430		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41071430G>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6017G>C	19.37:g.41071430G>C	ENSP00000263373:p.Arg2006Pro					SPTBN4_uc002onz.2_Missense_Mutation_p.R2006P|SPTBN4_uc010egx.2_Missense_Mutation_p.R749P	p.R2006P	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		28	6103	+			2006			Spectrin 17.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.6017G>C	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375767	0.42105	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	T;T;T	0.35789	1.29;1.29;1.29	4.62	2.5	0.30297	.	0.393092	0.21495	U	0.073619	T	0.46541	0.1398	L	0.54323	1.7	0.80722	D	1	D;B	0.69078	0.997;0.0	D;B	0.64321	0.924;0.001	T	0.37776	-0.9691	10	0.62326	D	0.03	.	6.18	0.20465	0.3829:0.0:0.6171:0.0	.	749;2006	C9JY79;Q9H254	.;SPTN4_HUMAN	P	2006;2006;2006;749	ENSP00000263373:R2006P;ENSP00000340345:R2006P;ENSP00000375879:R749P	ENSP00000340345:R2006P	R	+	2	0	SPTBN4	45763270	0.994000	0.37717	0.982000	0.44146	0.975000	0.68041	2.815000	0.48018	0.588000	0.29660	0.549000	0.68633	CGA		PASS	0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			10	8	10	8	---	---	---	---
ZNF234	10780	broad.mit.edu	37	19	44660428	44660428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:44660428G>T	ENST00000426739.2	+	6	517	c.259G>T	c.(259-261)Gag>Tag	p.E87*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.E87*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E87*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGTGAGGTGGAGACTGTTCC	0.428																																						uc002oym.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(259-261)GAG>TAG		zinc finger protein 234							88.0	90.0	90.0					19																	44660428		2012	4216	6228	SO:0001587	stop_gained	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660428G>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.259G>T	19.37:g.44660428G>T	ENSP00000400878:p.Glu87*					ZNF234_uc002oyl.3_Nonsense_Mutation_p.E87*	p.E87*	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	566	+		Prostate(69;0.0435)	87			KRAB.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Nonsense_Mutation	SNP	ENST00000426739.2	37	c.259G>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	38	7.107789	0.98070	.	.	ENSG00000167380	ENST00000426739	.	.	.	3.9	0.581	0.17407	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5148	0.27593	0.3153:0.0:0.6847:0.0	.	.	.	.	X	87	.	ENSP00000400878:E87X	E	+	1	0	ZNF226	49352268	0.003000	0.15002	0.191000	0.23289	0.938000	0.57974	0.513000	0.22770	0.420000	0.25954	0.591000	0.81541	GAG		PASS	0.428	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			6	116	6	116	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50909578	50909578	+	Splice_Site	SNP	A	A	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:50909578A>T	ENST00000440232.2	+	11	1435	c.1382A>T	c.(1381-1383)cAg>cTg	p.Q461L	POLD1_ENST00000595904.1_Splice_Site_p.Q461L|POLD1_ENST00000599857.1_Splice_Site_p.Q461L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	461			Q -> H (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.Q461L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GACATGCTGCAGGTATGGGCG	0.662								DNA polymerases (catalytic subunits)																														uc002psb.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(1381-1383)CAG>CTG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							48.0	47.0	48.0					19																	50909578		2203	4300	6503	SO:0001630	splice_region_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50909578A>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1383+1A>T	19.37:g.50909578A>T						POLD1_uc002psc.3_Missense_Mutation_p.Q461L|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.Q461L	p.Q461L	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	11	1438	+		all_neural(266;0.0571)	461					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1382A>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.272908	0.40194	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.10099	2.91	4.28	4.28	0.50868	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.07638	0.0192	N	0.17631	0.505	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.004;0.008	T	0.28170	-1.0052	10	0.23891	T	0.37	-39.3601	12.807	0.57619	1.0:0.0:0.0:0.0	.	461;461	E7EVW0;P28340	.;DPOD1_HUMAN	L	461;462	ENSP00000406046:Q461L	ENSP00000366129:Q462L	Q	+	2	0	POLD1	55601390	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.368000	0.73104	1.942000	0.56320	0.533000	0.62120	CAG		PASS	0.662	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		Missense_Mutation	5	18	5	18	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52023372	52023372	+	Silent	SNP	G	G	T	rs191672812	byFrequency	TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:52023372G>T	ENST00000425629.3	-	8	1480	c.1326C>A	c.(1324-1326)acC>acA	p.T442T	SIGLEC6_ENST00000346477.3_Silent_p.T426T|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000436458.1_Silent_p.T390T|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	442					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.T442T(1)|p.T415T(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACTCAGTGTCGGTGACCTTTG	0.493																																						uc002pwy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1324-1326)ACC>ACA		sialic acid binding Ig-like lectin 6 isoform 1							164.0	160.0	161.0					19																	52023372		1989	4169	6158	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023372G>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1326C>A	19.37:g.52023372G>T						SIGLEC6_uc002pwz.2_Silent_p.T426T|SIGLEC6_uc002pxa.2_3'UTR|SIGLEC6_uc010ydb.1_Silent_p.T379T|SIGLEC6_uc010ydc.1_3'UTR|SIGLEC6_uc010eoz.1_3'UTR	p.T442T	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	8	1488	-		all_neural(266;0.0199)	442			Cytoplasmic (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.1326C>A	CCDS12834.3																																																																																				PASS	0.493	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		38	65	38	65	---	---	---	---
GP6	51206	broad.mit.edu	37	19	55539070	55539070	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr19:55539070C>A	ENST00000417454.1	-	4	513	c.486G>T	c.(484-486)agG>agT	p.R162S	CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.R162S|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.R162S	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	162	Ig-like C2-type 2.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R162S(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAAAACTAGCCCTGTACCATC	0.572																																						uc002qik.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(484-486)AGG>AGT		glycoprotein VI (platelet) isoform 2							71.0	77.0	75.0					19																	55539070		1979	4162	6141	SO:0001583	missense	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55539070C>A	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.486G>T	19.37:g.55539070C>A	ENSP00000394922:p.Arg162Ser					GP6_uc002qil.2_Missense_Mutation_p.R162S|GP6_uc010esq.2_Missense_Mutation_p.R162S|RDH13_uc010esr.1_RNA	p.R162S	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	4	514	-			162			Ig-like C2-type 2.|Extracellular (Potential).		Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.486G>T	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514463	0.44763	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.00682	5.86;5.86;5.86	3.99	0.12	0.14691	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00608	0.0020	N	0.16833	0.445	0.09310	N	1	B;B;B	0.32071	0.355;0.062;0.053	B;B;B	0.28385	0.069;0.089;0.037	T	0.49551	-0.8928	9	0.87932	D	0	.	5.9836	0.19421	0.3881:0.4226:0.1894:0.0	.	162;162;162	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	S	162	ENSP00000394922:R162S;ENSP00000308782:R162S;ENSP00000334552:R162S	ENSP00000308782:R162S	R	-	3	2	GP6	60230882	0.006000	0.16342	0.025000	0.17156	0.222000	0.24845	-0.066000	0.11598	0.413000	0.25759	0.555000	0.69702	AGG		PASS	0.572	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			16	44	16	44	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333854	333854	+	Splice_Site	SNP	A	A	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr20:333854A>G	ENST00000382291.3	+	4	430	c.190A>G	c.(190-192)Atc>Gtc	p.I64V	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Splice_Site_p.I64V	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	64						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)		p.I64V(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TTCTCCCTAGATCAGCCTGTC	0.622																																						uc002wdi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)ATC>GTC		neurensin 2							111.0	101.0	104.0					20																	333854		2203	4300	6503	SO:0001630	splice_region_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333854A>G	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.190-1A>G	20.37:g.333854A>G						NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	p.I64V	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN			4	728	+		all_cancers(10;0.0834)	64					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.190A>G	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.075387	0.00375	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.10288	2.89;2.89	4.76	1.21	0.21127	.	0.307763	0.30519	N	0.009443	T	0.04543	0.0124	N	0.16066	0.365	0.19300	N	0.999971	B	0.23891	0.093	B	0.19666	0.026	T	0.37686	-0.9695	9	.	.	.	-23.2231	3.1134	0.06366	0.5337:0.2232:0.2431:0.0	.	64	Q9GZP1	NRSN2_HUMAN	V	64	ENSP00000371728:I64V;ENSP00000371722:I64V	.	I	+	1	0	NRSN2	281854	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	2.001000	0.40825	0.355000	0.24131	-0.269000	0.10298	ATC		PASS	0.622	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958	Missense_Mutation	8	44	8	44	---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21367572	21367572	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr20:21367572G>T	ENST00000377191.3	+	29	2810	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	XRN2_ENST00000430571.2_Missense_Mutation_p.Q829H|XRN2_ENST00000539513.1_Missense_Mutation_p.Q851H	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	905					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q905H(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGCCTTCCAGCCAAACCAGT	0.527																																						uc002wsf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2713-2715)CAG>CAT		5'-3' exoribonuclease 2							101.0	94.0	97.0					20																	21367572		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21367572G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2715G>T	20.37:g.21367572G>T	ENSP00000366396:p.Gln905His					XRN2_uc002wsg.1_Missense_Mutation_p.Q829H|XRN2_uc010zsk.1_Missense_Mutation_p.Q851H|XRN2_uc002wsh.1_Missense_Mutation_p.Q43H	p.Q905H	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			29	2810	+			905					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2715G>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764562	0.49574	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.32753	1.44;1.44;1.44	6.17	4.23	0.50019	.	0.196943	0.44285	D	0.000475	T	0.19485	0.0468	N	0.19112	0.55	0.33933	D	0.642327	P	0.47350	0.894	B	0.41723	0.365	T	0.27706	-1.0066	10	0.48119	T	0.1	-2.826	8.8099	0.34961	0.2561:0.0:0.7439:0.0	.	905	Q9H0D6	XRN2_HUMAN	H	905;829;851	ENSP00000366396:Q905H;ENSP00000413548:Q829H;ENSP00000441113:Q851H	ENSP00000366396:Q905H	Q	+	3	2	XRN2	21315572	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.015000	0.40961	1.621000	0.50320	0.655000	0.94253	CAG		PASS	0.527	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		4	49	4	49	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47269940	47269940	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr20:47269940C>G	ENST00000371941.3	-	20	2327	c.2305G>C	c.(2305-2307)Gag>Cag	p.E769Q	PREX1_ENST00000396220.1_Missense_Mutation_p.E769Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	769					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E769Q(2)|p.E769*(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGAAGTGCTCCAGGACCTCA	0.597																																						uc002xtw.1																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(4)	lung(3)|ovary(2)|pancreas(1)	6						c.(2305-2307)GAG>CAG		phosphatidylinositol-3,4,							101.0	98.0	99.0					20																	47269940		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47269940C>G	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2305G>C	20.37:g.47269940C>G	ENSP00000361009:p.Glu769Gln					PREX1_uc002xtv.1_Missense_Mutation_p.E66Q	p.E769Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		20	2328	-			769					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2305G>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350867	0.61183	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.57595	0.39;0.39	5.08	4.12	0.48240	PDZ/DHR/GLGF (2);	0.337088	0.24169	U	0.040916	T	0.60314	0.2259	L	0.47716	1.5	0.42283	D	0.992108	P;D	0.58620	0.871;0.983	P;P	0.58577	0.501;0.841	T	0.60541	-0.7243	10	0.45353	T	0.12	.	13.1443	0.59452	0.16:0.84:0.0:0.0	.	769;66	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	769	ENSP00000361009:E769Q;ENSP00000379522:E769Q	ENSP00000361009:E769Q	E	-	1	0	PREX1	46703347	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	6.950000	0.75977	1.111000	0.41721	0.456000	0.33151	GAG		PASS	0.597	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		49	94	49	94	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62595205	62595205	+	Silent	SNP	G	G	T	rs541608366		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr20:62595205G>T	ENST00000450537.1	-	9	1602	c.1542C>A	c.(1540-1542)acC>acA	p.T514T	ZNF512B_ENST00000369888.1_Silent_p.T514T|ZNF512B_ENST00000217130.3_Silent_p.T514T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	514					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.T514T(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCACGTTGCAGGTGGGGCAGA	0.652																																						uc002yhl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1540-1542)ACC>ACA		zinc finger protein 512B							76.0	75.0	76.0					20																	62595205		2203	4299	6502	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62595205G>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1542C>A	20.37:g.62595205G>T							p.T514T	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			9	1596	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		514					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.1542C>A	CCDS13548.1																																																																																				PASS	0.652	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		6	86	6	86	---	---	---	---
TUBA8	51807	broad.mit.edu	37	22	18609318	18609318	+	Silent	SNP	C	C	A	rs150232320		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr22:18609318C>A	ENST00000330423.3	+	4	646	c.573C>A	c.(571-573)acC>acA	p.T191T	TUBA8_ENST00000316027.6_Silent_p.T125T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	191					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T191T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TCCTGACCACCCACACCACAC	0.527																																						uc002znv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(571-573)ACC>ACA		tubulin, alpha 8							151.0	134.0	140.0					22																	18609318		2203	4300	6503	SO:0001819	synonymous_variant	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609318C>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.573C>A	22.37:g.18609318C>A						TUBA8_uc002znr.2_Silent_p.T125T|TUBA8_uc002znw.1_Silent_p.T215T|TUBA8_uc002znx.1_Silent_p.T38T	p.T191T	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN			4	646	+			191					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Silent	SNP	ENST00000330423.3	37	c.573C>A	CCDS13751.1																																																																																				PASS	0.527	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		6	108	6	108	---	---	---	---
CLDN5	7122	broad.mit.edu	37	22	19511188	19511188	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr22:19511188G>T	ENST00000406028.1	-	2	1906	c.846C>A	c.(844-846)ccC>ccA	p.P282P	CLDN5_ENST00000413119.2_Silent_p.P282P|CLDN5_ENST00000403084.1_Silent_p.P282P			O00501	CLD5_HUMAN	claudin 5	197					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.P282P(1)|p.P197P(1)		liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					AGTACTTCACGGGGAAGCTGA	0.711																																						uc002zpu.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(844-846)CCC>CCA		claudin 5							13.0	16.0	15.0					22																	19511188		2163	4237	6400	SO:0001819	synonymous_variant	7122				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr22:19511188G>T	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.846C>A	22.37:g.19511188G>T						CLDN5_uc010grr.2_Silent_p.P282P	p.P282P	NM_003277	NP_003268	O00501	CLD5_HUMAN			2	1061	-	Colorectal(54;0.0993)		197			Cytoplasmic (Potential).		B3KS11|Q53XW2|Q8WUW3	Silent	SNP	ENST00000406028.1	37	c.846C>A	CCDS13763.2																																																																																				PASS	0.711	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277		3	5	3	5	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36681312	36681312	+	Silent	SNP	G	G	T	rs527571090		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr22:36681312G>T	ENST00000216181.5	-	38	5568	c.5338C>A	c.(5338-5340)Cgg>Agg	p.R1780R	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1780					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R1780R(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTGCTGCCGAGCATTCTCG	0.592			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(5338-5340)CGG>AGG		myosin, heavy polypeptide 9, non-muscle							137.0	119.0	125.0					22																	36681312		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681312G>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5338C>A	22.37:g.36681312G>T							p.R1780R	NM_002473	NP_002464	P35579	MYH9_HUMAN			38	5569	-			1780			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.5338C>A	CCDS13927.1																																																																																				PASS	0.592	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	87	4	87	---	---	---	---
SSTR3	6753	broad.mit.edu	37	22	37603528	37603528	+	Silent	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr22:37603528G>T	ENST00000328544.3	-	2	848	c.315C>A	c.(313-315)gcC>gcA	p.A105A	SSTR3_ENST00000402501.1_Silent_p.A105A	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	105					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.A105A(1)|p.L106M(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	AGTAGGACAGGGCGTTCTGGG	0.622																																						uc003ara.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(1)	1						c.(313-315)GCC>GCA		somatostatin receptor 3							79.0	73.0	75.0					22																	37603528		2203	4300	6503	SO:0001819	synonymous_variant	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603528G>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.315C>A	22.37:g.37603528G>T						SSTR3_uc003arb.2_Silent_p.A105A	p.A105A	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	377	-			105			Extracellular (Potential).		A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.315C>A	CCDS13944.1																																																																																				PASS	0.622	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			8	46	8	46	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41652071	41652071	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr22:41652071C>T	ENST00000455915.2	-	9	2496	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	RANGAP1_ENST00000407260.4_Missense_Mutation_p.E288K|RANGAP1_ENST00000405486.1_Missense_Mutation_p.E343K|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E343K			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	343					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E343K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCAGCACCTCCTGAAGCTGT	0.627																																						uc003azs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)GAG>AAG		Ran GTPase activating protein 1							59.0	47.0	51.0					22																	41652071		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41652071C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1027G>A	22.37:g.41652071C>T	ENSP00000401470:p.Glu343Lys					RANGAP1_uc003azt.2_Missense_Mutation_p.E343K|RANGAP1_uc003azu.2_Missense_Mutation_p.E343K|RANGAP1_uc011aoz.1_Missense_Mutation_p.E288K	p.E343K	NM_002883	NP_002874	P46060	RAGP1_HUMAN			9	2497	-			343			LRR 6.		Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1027G>A	CCDS14012.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.156081|6.156081	0.97334|0.97334	.|.	.|.	ENSG00000100401|ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260|ENST00000446258	T;T;T;T|.	0.53640|.	0.66;0.66;0.66;0.61|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.097391|.	0.64402|.	D|.	0.000001|.	T|T	0.77916|0.77916	0.4202|0.4202	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	P;P|.	0.50943|.	0.94;0.67|.	P;P|.	0.54544|.	0.755;0.643|.	T|T	0.78365|0.78365	-0.2232|-0.2232	10|5	0.49607|.	T|.	0.09|.	-28.0801|-28.0801	18.8839|18.8839	0.92367|0.92367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288;343|.	F8W7I9;P46060|.	.;RAGP1_HUMAN|.	K|E	343;343;343;343;288|238	ENSP00000385866:E343K;ENSP00000348577:E343K;ENSP00000401470:E343K;ENSP00000385354:E288K|.	ENSP00000348577:E343K|.	E|G	-|-	1|2	0|0	RANGAP1|RANGAP1	39982017|39982017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.397000|7.397000	0.79903|0.79903	2.467000|2.467000	0.83353|0.83353	0.561000|0.561000	0.74099|0.74099	GAG|GGA		PASS	0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		9	38	9	38	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45795000	45795000	+	Missense_Mutation	SNP	C	C	A	rs573215133	byFrequency	TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr22:45795000C>A	ENST00000357450.4	-	6	1087	c.1088G>T	c.(1087-1089)cGa>cTa	p.R363L	SMC1B_ENST00000404354.3_Missense_Mutation_p.R363L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	363					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R363L(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCAATGTCTCGCTTTTTATG	0.353																																						uc003bgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1087-1089)CGA>CTA		SMC1 structural maintenance of chromosomes							130.0	121.0	124.0					22																	45795000		1811	4086	5897	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45795000C>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1088G>T	22.37:g.45795000C>A	ENSP00000350036:p.Arg363Leu					SMC1B_uc003bgd.2_Missense_Mutation_p.R363L|SMC1B_uc003bge.1_Missense_Mutation_p.R146L	p.R363L	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	6	1140	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	363			Potential.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1088G>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887457	0.52014	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79940	-1.32;-1.19	5.7	3.58	0.41010	RecF/RecN/SMC (1);	0.394007	0.20748	N	0.086409	T	0.72835	0.3510	L	0.45285	1.41	0.37019	D	0.896116	B;B;B	0.24675	0.017;0.087;0.109	B;B;B	0.32724	0.026;0.065;0.151	T	0.69335	-0.5172	10	0.27082	T	0.32	.	8.1182	0.30955	0.0:0.6886:0.1165:0.1949	.	363;363;363	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	L	363	ENSP00000350036:R363L;ENSP00000385902:R363L	ENSP00000350036:R363L	R	-	2	0	SMC1B	44173664	0.068000	0.21057	0.987000	0.45799	0.963000	0.63663	0.348000	0.20031	1.403000	0.46800	0.655000	0.94253	CGA		PASS	0.353	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		4	81	4	81	---	---	---	---
EDA2R	60401	broad.mit.edu	37	X	65824983	65824983	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chrX:65824983C>A	ENST00000374719.3	-	3	229	c.173G>T	c.(172-174)tGt>tTt	p.C58F	EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000253392.5_Missense_Mutation_p.C58F|EDA2R_ENST00000396050.1_Missense_Mutation_p.C58F|EDA2R_ENST00000450752.1_Missense_Mutation_p.C58F|EDA2R_ENST00000456230.2_Missense_Mutation_p.C58F	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	58					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.C58F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCAACTCTGACATCTGTGGTG	0.542																																						uc004dwq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(172-174)TGT>TTT		X-linked ectodysplasin receptor							133.0	78.0	97.0					X																	65824983		2203	4300	6503	SO:0001583	missense	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65824983C>A	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.173G>T	X.37:g.65824983C>A	ENSP00000363851:p.Cys58Phe					EDA2R_uc004dwr.2_Missense_Mutation_p.C58F|EDA2R_uc004dws.2_Missense_Mutation_p.C58F|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Missense_Mutation_p.C58F|EDA2R_uc004dwt.1_Missense_Mutation_p.C58F	p.C58F	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN			2	184	-			58			Extracellular (Potential).|TNFR-Cys 2.		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	c.173G>T	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694218	0.68386	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.99936	-8.3;-8.3;-8.3;-8.3;-8.3	4.04	4.04	0.47022	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.000000	0.64402	D	0.000015	D	0.99908	0.9956	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.997;0.998;0.999	D	0.95078	0.8210	10	0.87932	D	0	-6.5642	12.6999	0.57026	0.0:1.0:0.0:0.0	.	58;58;58	Q9HAV5-2;B2RBZ9;Q9HAV5	.;.;TNR27_HUMAN	F	58	ENSP00000363851:C58F;ENSP00000379365:C58F;ENSP00000253392:C58F;ENSP00000393935:C58F;ENSP00000402929:C58F	ENSP00000253392:C58F	C	-	2	0	EDA2R	65741708	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.310000	0.65780	1.841000	0.53522	0.600000	0.82982	TGT		PASS	0.542	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		3	9	3	9	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104440271	104440271	+	Missense_Mutation	SNP	C	C	A	rs146735893		TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chrX:104440271C>A	ENST00000372582.1	+	3	953	c.197C>A	c.(196-198)aCg>aAg	p.T66K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.T66K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	66	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.T66K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACTATAGCACGGCCCAGAGC	0.468																																						uc004elz.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(196-198)ACG>AAG		interleukin 1 receptor accessory protein-like 2							125.0	102.0	110.0					X																	104440271		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104440271C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.197C>A	X.37:g.104440271C>A	ENSP00000361663:p.Thr66Lys						p.T66K	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			3	953	+			66			Ig-like C2-type 1.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.197C>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866211	0.32977	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.76968	-1.06;-1.06	5.59	1.34	0.21922	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170317	0.40818	N	0.001007	T	0.66147	0.2760	L	0.39898	1.24	0.80722	D	1	B	0.21381	0.055	B	0.31869	0.137	T	0.52449	-0.8574	10	0.06236	T	0.91	.	11.3902	0.49809	0.0:0.164:0.0:0.836	.	66	Q9NP60	IRPL2_HUMAN	K	66	ENSP00000361663:T66K;ENSP00000344976:T66K	ENSP00000344976:T66K	T	+	2	0	IL1RAPL2	104326927	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	0.509000	0.22707	0.258000	0.21686	-1.229000	0.01577	ACG		PASS	0.468	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		9	17	9	17	---	---	---	---
HTR2C	3358	broad.mit.edu	37	X	114141492	114141492	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chrX:114141492G>T	ENST00000276198.1	+	6	1619	c.891G>T	c.(889-891)agG>agT	p.R297S	HTR2C_ENST00000371951.1_Missense_Mutation_p.R297S|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	297					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R297S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GACGTCCTAGGGGCACCATGC	0.468																																						uc004epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(889-891)AGG>AGT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						143.0	130.0	134.0					X																	114141492		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141492G>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.891G>T	X.37:g.114141492G>T	ENSP00000276198:p.Arg297Ser					HTR2C_uc010nqc.1_Missense_Mutation_p.R297S|HTR2C_uc004epv.1_3'UTR	p.R297S	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1619	+			297			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.891G>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970676	0.53614	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.70986	-0.53;-0.53	5.04	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.172539	0.49916	D	0.000134	T	0.71685	0.3369	L	0.49350	1.555	0.80722	D	1	P	0.51933	0.949	P	0.58620	0.842	T	0.65545	-0.6142	10	0.24483	T	0.36	.	6.6575	0.22996	0.3103:0.0:0.6897:0.0	.	297	P28335	5HT2C_HUMAN	S	297	ENSP00000276198:R297S;ENSP00000361019:R297S	ENSP00000276198:R297S	R	+	3	2	HTR2C	114047748	1.000000	0.71417	0.949000	0.38748	0.926000	0.56050	2.364000	0.44187	0.463000	0.27118	0.468000	0.43344	AGG		PASS	0.468	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		46	50	46	50	---	---	---	---
SELT	51714	broad.mit.edu	37	3	150340184	150340184	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr3:150340184delT	ENST00000471696.1	+	2	225	c.150delT	c.(148-150)ggtfs	p.G50fs	SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_5'UTR|SELT_ENST00000477889.1_5'UTR	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		50					cell redox homeostasis (GO:0045454)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|pancreas development (GO:0031016)|selenocysteine incorporation (GO:0001514)	endoplasmic reticulum (GO:0005783)	selenium binding (GO:0008430)							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTCCTGAGGTTATAGGCGGG	0.383																																						uc011bnx.1																			0					0						c.(148-150)GGTfs		selenoprotein T precursor							70.0	66.0	67.0					3																	150340184		1815	4049	5864	SO:0001589	frameshift_variant	51714				cell redox homeostasis|selenocysteine incorporation		selenium binding	g.chr3:150340184delT																												ENST00000471696.1:c.150delT	3.37:g.150340184delT	ENSP00000418910:p.Gly50fs						p.G50fs	NM_016275	NP_057359	P62341	SELT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	234	+			50					O95904|Q8IY80|Q9CZ45|Q9NZJ3	Frame_Shift_Del	DEL	ENST00000471696.1	37	c.150delT	CCDS46936.1																																																																																					0.383	SELT-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000357590.1			4	2	4	2	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86679568	86679570	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr5:86679568_86679570delTGA	ENST00000274376.6	+	21	3293_3295	c.2729_2731delTGA	c.(2728-2733)ctgaat>cat	p.910_911LN>H	RASA1_ENST00000456692.2_In_Frame_Del_p.733_734LN>H|RASA1_ENST00000512763.1_In_Frame_Del_p.743_744LN>H|RASA1_ENST00000506290.1_In_Frame_Del_p.744_745LN>H	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	910	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CCTGCCATCCTGAATCCACGGAT	0.296																																						uc003kiw.2																			0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2728-2733)CTGAAT>CAT		RAS p21 protein activator 1 isoform 1																																				SO:0001651	inframe_deletion	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86679568_86679570delTGA		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2729_2731delTGA	5.37:g.86679568_86679570delTGA	ENSP00000274376:p.Leu910_Asn911delinsHis					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_In_Frame_Del_p.733_734LN>H|RASA1_uc011ctv.1_In_Frame_Del_p.743_744LN>H|RASA1_uc011ctw.1_In_Frame_Del_p.744_745LN>H|RASA1_uc010jaw.2_In_Frame_Del_p.732_733LN>H	p.910_911LN>H	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	21	2847_2849	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	910_911			Ras-GAP.		B2R6W3|Q9UDI1	In_Frame_Del	DEL	ENST00000274376.6	37	c.2729_2731delTGA	CCDS34200.1																																																																																					0.296	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		16	9	16	9	---	---	---	---
PSORS1C1	170679	broad.mit.edu	37	6	31107683	31107683	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr6:31107683delC	ENST00000259881.9	+	6	722	c.433delC	c.(433-435)cctfs	p.P145fs	PSORS1C2_ENST00000259845.4_5'Flank|PSORS1C1_ENST00000481450.2_Frame_Shift_Del_p.P82fs|PSORS1C1_ENST00000547221.1_Frame_Shift_Del_p.P97fs	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	145										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CTCCCATTCTCCTTTTGGTCT	0.537																																						uc003nsl.1																			0				ovary(1)	1						c.(433-435)CCTfs		SEEK1 protein							233.0	214.0	221.0					6																	31107683		1511	2709	4220	SO:0001589	frameshift_variant	170679							g.chr6:31107683delC	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.433delC	6.37:g.31107683delC	ENSP00000259881:p.Pro145fs					PSORS1C1_uc010jsj.1_Frame_Shift_Del_p.P94fs|PSORS1C1_uc003nsn.1_RNA|PSORS1C2_uc003nso.3_5'Flank	p.P145fs	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN			6	707	+			145					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Frame_Shift_Del	DEL	ENST00000259881.9	37	c.433delC	CCDS34390.1																																																																																					0.537	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		68	38	68	38	---	---	---	---
DTX3	196403	broad.mit.edu	37	12	58001040	58001040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:58001040delC	ENST00000548198.1	+	3	1898	c.394delC	c.(394-396)cccfs	p.P133fs	DTX3_ENST00000337737.3_Frame_Shift_Del_p.P133fs|DTX3_ENST00000548804.1_Frame_Shift_Del_p.P133fs|DTX3_ENST00000551632.1_Frame_Shift_Del_p.P136fs|ARHGEF25_ENST00000333972.7_5'Flank			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	133	Pro-rich.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCCACTTCTGCCCCCAGGAGC	0.726																																						uc001sow.1																			0				breast(1)|central_nervous_system(1)	2						c.(394-396)CCCfs		deltex homolog 3							7.0	8.0	8.0					12																	58001040		1748	3970	5718	SO:0001589	frameshift_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58001040delC	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.394delC	12.37:g.58001040delC	ENSP00000447873:p.Pro133fs					DTX3_uc001sov.1_Frame_Shift_Del_p.P125fs|DTX3_uc001sox.1_Frame_Shift_Del_p.P125fs|DTX3_uc001soy.1_Frame_Shift_Del_p.P125fs|GEFT_uc009zpy.2_5'Flank	p.P132fs	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN			5	731	+	Melanoma(17;0.122)		132			Pro-rich.		Q53ZZ2|Q8NAU6|Q8NDS8	Frame_Shift_Del	DEL	ENST00000548198.1	37	c.394delC	CCDS41800.1																																																																																					0.726	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		5	5	5	5	---	---	---	---
LOC100507065	100507065	broad.mit.edu	37	12	65938069	65938069	+	IGR	DEL	C	C	-			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr12:65938069delC								MSRB3 (77382 upstream) : RP11-230G5.2 (13844 downstream)																							GAAAGACTGGCCTCAACTTCT	0.463																																						uc010ssu.1																			0													Homo sapiens, clone IMAGE:5172510, mRNA.																																				SO:0001628	intergenic_variant	0							g.chr12:65938069delC																													12.37:g.65938069delC														3		-									RNA	DEL		37	c.674delG																																																																																				0		0.463									4	2	4	2	---	---	---	---
PHF11	51131	broad.mit.edu	37	13	50102723	50102723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr13:50102723delA	ENST00000378319.3	+	10	959	c.918delA	c.(916-918)ttafs	p.L306fs	PHF11_ENST00000357596.3_Frame_Shift_Del_p.L267fs|PHF11_ENST00000488958.1_Frame_Shift_Del_p.L267fs	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		TTCAGGACTTAAAACAAACCT	0.343																																						uc001vdb.2																			0					0						c.(916-918)TTAfs		PHD finger protein 11 isoform a							130.0	121.0	124.0					13																	50102723		2203	4300	6503	SO:0001589	frameshift_variant	51131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr13:50102723delA	AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.918delA	13.37:g.50102723delA	ENSP00000367570:p.Leu306fs					PHF11_uc001vdc.2_Frame_Shift_Del_p.L267fs|PHF11_uc001vdd.2_RNA	p.L306fs	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)	10	1255	+		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	306					Q5W0A4|Q5W0A6|Q9Y5A2	Frame_Shift_Del	DEL	ENST00000378319.3	37	c.918delA	CCDS31975.1																																																																																					0.343	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119		32	23	32	23	---	---	---	---
OXGR1	27199	broad.mit.edu	37	13	97639814	97639815	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr13:97639814_97639815insT	ENST00000298440.1	-	4	442_443	c.199_200insA	c.(199-201)agcfs	p.S67fs	OXGR1_ENST00000543457.1_Frame_Shift_Ins_p.S67fs	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	67					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GATGGTGCTGCTCTTCCAAGGT	0.47																																						uc001vmx.1																			0				ovary(1)|skin(1)	2						c.(199-201)AGCfs		oxoglutarate (alpha-ketoglutarate) receptor 1																																				SO:0001589	frameshift_variant	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639814_97639815insT	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.200dupA	13.37:g.97639815_97639815dupT	ENSP00000298440:p.Ser67fs					OXGR1_uc010afr.1_Frame_Shift_Ins_p.S67fs	p.S67fs	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	443_444	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		67			Cytoplasmic (Potential).		Q5T5A7|Q86TL1	Frame_Shift_Ins	INS	ENST00000298440.1	37	c.199_200insA	CCDS9482.1																																																																																					0.470	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		13	13	13	13	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80091962	80091963	+	Intron	INS	-	-	A			TCGA-66-2744-01A-01D-0983-08	TCGA-66-2744-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43be1a37-b18e-4e96-89e6-ed6ee1d8e65a	701bf715-e029-45b5-9c93-4f4a6c8e564d	g.chr17:80091962_80091963insA	ENST00000389641.4	-	16	2281				CCDC57_ENST00000392346.2_Frame_Shift_Ins_p.H101fs|CCDC57_ENST00000392347.1_Intron			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57											endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGATGTAAAATGGGGCTGCACC	0.5																																						uc002kdy.2																			0				ovary(2)	2						c.(148-150)CATfs		SubName: Full=cDNA FLJ23754 fis, clone HEP17288;																																				SO:0001627	intron_variant	284001							g.chr17:80091962_80091963insA	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2245-5489->T	17.37:g.80091962_80091963insA						CCDC57_uc002kdx.1_Intron	p.H50fs			Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		2	162_163	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Frame_Shift_Ins	INS	ENST00000389641.4	37	c.148_149insT																																																																																						0.500	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		4	2	4	2	---	---	---	---
