#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
PER3	8863	broad.mit.edu	37	1	7845624	7845624	+	Silent	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:7845624C>G	ENST00000361923.2	+	2	427	c.252C>G	c.(250-252)ctC>ctG	p.L84L	PER3_ENST00000377541.1_Silent_p.L84L|PER3_ENST00000377532.3_Silent_p.L84L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	84					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L84L(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACTATGCTCTCCGCTGTGTCC	0.473																																						uc001aoo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(250-252)CTC>CTG		period 3							76.0	75.0	76.0					1																	7845624		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7845624C>G	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.252C>G	1.37:g.7845624C>G						PER3_uc009vmg.1_Silent_p.L84L|PER3_uc009vmh.1_Silent_p.L84L|PER3_uc001aop.2_Silent_p.L84L|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Silent_p.L84L	p.L84L	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	2	427	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	84					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.252C>G	CCDS89.1																																																																																				PASS	0.473	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		13	60	13	60	---	---	---	---
CLSTN1	22883	broad.mit.edu	37	1	9811556	9811556	+	Silent	SNP	G	G	A	rs140241620		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:9811556G>A	ENST00000377298.4	-	5	1416	c.624C>T	c.(622-624)gaC>gaT	p.D208D	CLSTN1_ENST00000361311.4_Silent_p.D198D|CLSTN1_ENST00000377288.3_Silent_p.D208D	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	208	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.D208D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TAAAGGGCACGTCTGGAGTGA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19568	0.001		0.0	False		,,,				2504	0.0					uc001aqh.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(622-624)GAC>GAT		calsyntenin 1 isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	101.0	94.0	97.0		624,594	-5.9	0.7	1	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CLSTN1	NM_001009566.1,NM_014944.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	208/982,198/972	9811556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811556G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.624C>T	1.37:g.9811556G>A						CLSTN1_uc001aqi.2_Silent_p.D198D|CLSTN1_uc010oag.1_Silent_p.D208D	p.D208D	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	1383	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	208			Cadherin 2.|Extracellular (Potential).		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.624C>T	CCDS30580.1																																																																																				PASS	0.532	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			16	116	16	116	---	---	---	---
MTHFR	4524	broad.mit.edu	37	1	11863045	11863045	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:11863045C>G	ENST00000376592.1	-	1	257	c.129G>C	c.(127-129)gaG>gaC	p.E43D	MTHFR_ENST00000376590.3_Missense_Mutation_p.E43D|MTHFR_ENST00000376585.1_Missense_Mutation_p.E84D|MTHFR_ENST00000376583.3_Missense_Mutation_p.E84D			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	43					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.E43D(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CCCGGAGTCTCTCATGCCGCT	0.587																																						uc001atc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GAG>GAC		5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						60.0	58.0	59.0					1																	11863045		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11863045C>G	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.129G>C	1.37:g.11863045C>G	ENSP00000365777:p.Glu43Asp					MTHFR_uc001atb.1_Missense_Mutation_p.E66D|MTHFR_uc001atd.1_RNA|MTHFR_uc009vnd.1_RNA	p.E43D	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	2	313	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	43					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.129G>C	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087285	0.55968	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034	D;D;D;D;T	0.82619	-1.62;-1.63;-1.62;-1.63;-1.44	5.66	3.77	0.43336	.	0.297880	0.41097	N	0.000955	T	0.75295	0.3830	L	0.50333	1.59	0.45227	D	0.998232	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.65380	-0.6182	10	0.20519	T	0.43	.	9.1324	0.36852	0.0:0.6064:0.3175:0.0761	.	43;84	P42898;Q5SNW6	MTHR_HUMAN;.	D	43;84;43;84;43	ENSP00000365777:E43D;ENSP00000365767:E84D;ENSP00000365775:E43D;ENSP00000365770:E84D;ENSP00000405082:E43D	ENSP00000365767:E84D	E	-	3	2	MTHFR	11785632	1.000000	0.71417	0.730000	0.30809	0.984000	0.73092	1.011000	0.29911	0.725000	0.32318	0.549000	0.68633	GAG		PASS	0.587	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		13	52	13	52	---	---	---	---
AADACL3	126767	broad.mit.edu	37	1	12785627	12785627	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:12785627G>A	ENST00000359318.5	+	4	922	c.717G>A	c.(715-717)gaG>gaA	p.E239E	AADACL3_ENST00000332530.3_Silent_p.E169E	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	239							hydrolase activity (GO:0016787)	p.E239E(1)|p.E169E(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTTAAGGAGAGGGGTTACC	0.502																																						uc009vnn.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(715-717)GAG>GAA		arylacetamide deacetylase-like 3 isoform 1							102.0	103.0	103.0					1																	12785627		1957	4147	6104	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12785627G>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.717G>A	1.37:g.12785627G>A						AADACL3_uc001aug.1_Silent_p.E169E	p.E239E	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	950	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	239					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.717G>A	CCDS41253.1																																																																																				PASS	0.502	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		41	165	41	165	---	---	---	---
RNF186	54546	broad.mit.edu	37	1	20141334	20141334	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:20141334C>G	ENST00000375121.2	-	1	437	c.261G>C	c.(259-261)aaG>aaC	p.K87N	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	87						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.K87N(1)		kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGGTGACCTTGCGGCACA	0.672																																						uc001bcr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)AAG>AAC		ring finger protein 186							45.0	45.0	45.0					1																	20141334		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141334C>G		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.261G>C	1.37:g.20141334C>G	ENSP00000364263:p.Lys87Asn						p.K87N	NM_019062	NP_061935	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	438	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	87					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.261G>C	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456258	0.63401	.	.	ENSG00000178828	ENST00000375121	T	0.68765	-0.35	5.84	2.98	0.34508	Zinc finger, RING/FYVE/PHD-type (1);	0.173747	0.36893	N	0.002354	T	0.67277	0.2876	M	0.62088	1.915	0.19945	N	0.999948	D	0.53462	0.96	P	0.52856	0.711	T	0.59888	-0.7369	10	0.62326	D	0.03	-18.5902	4.3012	0.10925	0.0:0.5278:0.1612:0.3109	.	87	Q9NXI6	RN186_HUMAN	N	87	ENSP00000364263:K87N	ENSP00000364263:K87N	K	-	3	2	RNF186	20013921	0.707000	0.27866	0.946000	0.38457	0.793000	0.44817	0.420000	0.21263	0.820000	0.34516	0.650000	0.86243	AAG		PASS	0.672	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		18	82	18	82	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23111401	23111401	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:23111401G>A	ENST00000400191.3	+	3	661	c.643G>A	c.(643-645)Gag>Aag	p.E215K	EPHB2_ENST00000374627.1_Missense_Mutation_p.E209K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E215K|EPHB2_ENST00000544305.1_Missense_Mutation_p.E215K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E215K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	215	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.E215K(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTCGGGGGCTGAGAGCACATC	0.627																																						uc009vqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(643-645)GAG>AAG		ephrin receptor EphB2 isoform 1 precursor							44.0	45.0	45.0					1																	23111401		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111401G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.643G>A	1.37:g.23111401G>A	ENSP00000383053:p.Glu215Lys					EPHB2_uc001bge.2_Missense_Mutation_p.E215K|EPHB2_uc001bgf.2_Missense_Mutation_p.E215K|EPHB2_uc010odu.1_Missense_Mutation_p.E215K	p.E215K	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	788	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	215			Extracellular (Potential).|Cys-rich.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.643G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.252053	0.95336	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.74526	5.32;-0.83;-0.85;-0.83;-0.82	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	M	0.70787	2.145	0.80722	D	1	B;D;D;D	0.63880	0.423;0.993;0.987;0.965	B;P;P;P	0.61940	0.223;0.896;0.786;0.831	D	0.85878	0.1420	10	0.87932	D	0	.	17.6478	0.88153	0.0:0.0:1.0:0.0	.	215;215;233;215	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	K	215;215;215;215;215;209	ENSP00000444174:E215K;ENSP00000363761:E215K;ENSP00000383053:E215K;ENSP00000363763:E215K;ENSP00000363758:E209K	ENSP00000363755:E215K	E	+	1	0	EPHB2	22983988	1.000000	0.71417	0.982000	0.44146	0.889000	0.51656	9.657000	0.98554	2.750000	0.94351	0.585000	0.79938	GAG		PASS	0.627	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		21	56	21	56	---	---	---	---
MED18	54797	broad.mit.edu	37	1	28661072	28661072	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:28661072G>T	ENST00000373842.4	+	3	427	c.218G>T	c.(217-219)cGa>cTa	p.R73L	MED18_ENST00000398997.2_Missense_Mutation_p.R73L|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	73						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R73L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGGGCCCGACGCTCTATG	0.572																																						uc001bpt.3																			2	Substitution - Missense(2)		lung(2)		0						c.(217-219)CGA>CTA		mediator complex subunit 18							170.0	177.0	175.0					1																	28661072		2203	4300	6503	SO:0001583	missense	54797				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding	g.chr1:28661072G>T	BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"""mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"""			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.218G>T	1.37:g.28661072G>T	ENSP00000362948:p.Arg73Leu					MED18_uc009vtg.2_Missense_Mutation_p.R73L	p.R73L	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)	3	463	+		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)	73					D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	c.218G>T	CCDS322.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103439	0.94245	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	5.75	0.90469	Mediator complex, subunit Med18, metazoa/fungi (1);	0.055447	0.64402	D	0.000001	T	0.79263	0.4416	M	0.77486	2.375	0.38029	D	0.935096	D	0.64830	0.994	D	0.65573	0.936	T	0.82665	-0.0345	9	0.72032	D	0.01	-14.1825	17.4171	0.87504	0.0:0.0:1.0:0.0	.	73	Q9BUE0	MED18_HUMAN	L	73	.	ENSP00000362948:R73L	R	+	2	0	MED18	28533659	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	9.374000	0.97172	2.728000	0.93425	0.655000	0.94253	CGA		PASS	0.572	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		97	329	97	329	---	---	---	---
TINAGL1	64129	broad.mit.edu	37	1	32050834	32050834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:32050834C>T	ENST00000271064.7	+	8	1016	c.940C>T	c.(940-942)Cga>Tga	p.R314*	TINAGL1_ENST00000457433.2_Nonsense_Mutation_p.R283*|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	314					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R314*(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GATGCACAGCCGAGCCATGGG	0.617																																						uc001bta.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(940-942)CGA>TGA		tubulointerstitial nephritis antigen-like 1							88.0	99.0	95.0					1																	32050834		2203	4300	6503	SO:0001587	stop_gained	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050834C>T	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.940C>T	1.37:g.32050834C>T	ENSP00000271064:p.Arg314*					TINAGL1_uc001bsz.2_Nonsense_Mutation_p.R169*|TINAGL1_uc010ogj.1_Nonsense_Mutation_p.R283*|TINAGL1_uc010ogk.1_Nonsense_Mutation_p.R314*	p.R314*	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	8	1066	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	314					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Nonsense_Mutation	SNP	ENST00000271064.7	37	c.940C>T	CCDS343.1	.	.	.	.	.	.	.	.	.	.	c	37	6.221852	0.97390	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6662	0.91491	0.0:1.0:0.0:0.0	.	.	.	.	X	283;314;302	.	ENSP00000271064:R314X	R	+	1	2	TINAGL1	31823421	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	5.855000	0.69510	2.586000	0.87340	0.561000	0.74099	CGA		PASS	0.617	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		60	78	60	78	---	---	---	---
ZC3H12A	80149	broad.mit.edu	37	1	37948776	37948776	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:37948776G>A	ENST00000373087.6	+	6	1480	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.G455E(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGTTCGAGGAGGAGGCCCT	0.647																																						uc001cbb.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1363-1365)GGA>GAA		zinc finger CCCH-type containing 12A							28.0	34.0	32.0					1																	37948776		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948776G>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1364G>A	1.37:g.37948776G>A	ENSP00000362179:p.Gly455Glu					ZC3H12A_uc001cbc.1_Missense_Mutation_p.G250E	p.G455E	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			6	1514	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	455						Missense_Mutation	SNP	ENST00000373087.6	37	c.1364G>A	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709707	0.48517	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.22134	1.97	5.43	5.43	0.79202	.	0.475755	0.23041	N	0.052604	T	0.37320	0.0999	L	0.60455	1.87	0.31824	N	0.625571	D;D	0.71674	0.998;0.969	D;P	0.66351	0.943;0.505	T	0.20042	-1.0287	10	0.10377	T	0.69	-16.3226	14.7342	0.69404	0.0:0.0:1.0:0.0	.	250;455	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	E	455	ENSP00000362179:G455E	ENSP00000362174:G455E	G	+	2	0	ZC3H12A	37721363	1.000000	0.71417	0.178000	0.23040	0.838000	0.47535	2.179000	0.42528	2.532000	0.85374	0.561000	0.74099	GGA		PASS	0.647	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		26	43	26	43	---	---	---	---
RLF	6018	broad.mit.edu	37	1	40661370	40661370	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:40661370G>A	ENST00000372771.4	+	4	568	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	181					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E181K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGTTACCAAGGAAGGGGTGTG	0.378																																						uc001cfc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(541-543)GAA>AAA		rearranged L-myc fusion							82.0	82.0	82.0					1																	40661370		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40661370G>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.541G>A	1.37:g.40661370G>A	ENSP00000361857:p.Glu181Lys						p.E181K	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		4	572	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	181					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.541G>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247636	0.95305	.	.	ENSG00000117000	ENST00000372771	T	0.16457	2.34	5.1	5.1	0.69264	.	0.093945	0.64402	D	0.000001	T	0.39253	0.1071	M	0.66939	2.045	0.49213	D	0.999765	D	0.67145	0.996	P	0.61070	0.883	T	0.27331	-1.0077	10	0.87932	D	0	-14.6397	18.5035	0.90890	0.0:0.0:1.0:0.0	.	181	Q13129	RLF_HUMAN	K	181	ENSP00000361857:E181K	ENSP00000361857:E181K	E	+	1	0	RLF	40433957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.128000	0.77217	2.369000	0.80426	0.460000	0.39030	GAA		PASS	0.378	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		46	59	46	59	---	---	---	---
PPCS	79717	broad.mit.edu	37	1	42925442	42925442	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:42925442G>C	ENST00000372561.3	+	3	788	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000455780.1_Missense_Mutation_p.E88Q|PPCS_ENST00000372562.1_Missense_Mutation_p.E88Q	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	261					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)	p.E261Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAATATCCTTGAGTCACGACA	0.403																																						uc001chl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)GAG>CAG		phosphopantothenoylcysteine synthetase isoform							126.0	119.0	121.0					1																	42925442		1870	4107	5977	SO:0001583	missense	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42925442G>C	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.781G>C	1.37:g.42925442G>C	ENSP00000361642:p.Glu261Gln					PPCS_uc001chk.2_Missense_Mutation_p.E88Q	p.E261Q	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN			3	845	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	261					Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	c.781G>C	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	G	9.929	1.214344	0.22289	.	.	ENSG00000127125	ENST00000372562;ENST00000455780;ENST00000372561	.	.	.	6.01	6.01	0.97437	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.140265	0.64402	D	0.000005	T	0.38506	0.1043	N	0.10809	0.05	0.49389	D	0.99978	B	0.20780	0.048	B	0.26614	0.071	T	0.31833	-0.9929	9	0.02654	T	1	-7.2022	18.015	0.89236	0.0:0.0:1.0:0.0	.	261	Q9HAB8	PPCS_HUMAN	Q	88;88;261	.	ENSP00000361642:E261Q	E	+	1	0	PPCS	42698029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.956000	0.93066	2.861000	0.98227	0.650000	0.86243	GAG		PASS	0.403	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		88	165	88	165	---	---	---	---
DMBX1	127343	broad.mit.edu	37	1	46972718	46972718	+	Missense_Mutation	SNP	C	C	A	rs374758116		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:46972718C>A	ENST00000360032.3	+	1	50	c.36C>A	c.(34-36)caC>caA	p.H12Q	DMBX1_ENST00000371956.4_Missense_Mutation_p.H12Q	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.H12Q(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTCACTGCACGCCATGAACT	0.622																																						uc001cpx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(34-36)CAC>CAA		diencephalon/mesencephalon homeobox 1 isoform b							101.0	80.0	87.0					1																	46972718		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46972718C>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.36C>A	1.37:g.46972718C>A	ENSP00000353132:p.His12Gln					DMBX1_uc001cpw.2_Missense_Mutation_p.H12Q	p.H12Q	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			1	51	+	Acute lymphoblastic leukemia(166;0.155)		12			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.36C>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.828978	0.71258	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.94330	-3.4;-3.37	5.25	-6.75	0.01738	.	0.000000	0.85682	D	0.000000	D	0.91533	0.7326	N	0.19112	0.55	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89293	0.3620	10	0.34782	T	0.22	.	16.6576	0.85232	0.0:0.2453:0.0:0.7547	.	12;12	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	Q	12	ENSP00000361024:H12Q;ENSP00000353132:H12Q	ENSP00000353132:H12Q	H	+	3	2	DMBX1	46745305	0.874000	0.30092	0.720000	0.30636	0.971000	0.66376	-0.067000	0.11579	-1.427000	0.01992	-0.794000	0.03295	CAC		PASS	0.622	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			18	103	18	103	---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53279333	53279333	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:53279333C>T	ENST00000294353.6	+	11	1966	c.1821C>T	c.(1819-1821)gcC>gcT	p.A607A	ZYG11B_ENST00000545132.1_3'UTR|ZYG11B_ENST00000443756.2_Silent_p.A537A	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	607								p.A607A(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GAATTATTGCCCATTTAATAT	0.408																																						uc001cuj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1819-1821)GCC>GCT		zyg-11 homolog B							120.0	109.0	112.0					1																	53279333		2203	4300	6503	SO:0001819	synonymous_variant	79699						protein binding	g.chr1:53279333C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1821C>T	1.37:g.53279333C>T						ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.A528A|ZYG11B_uc009vzh.2_Silent_p.A29A	p.A607A	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			11	2016	+			607					Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	37	c.1821C>T	CCDS30717.1																																																																																				PASS	0.408	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		27	165	27	165	---	---	---	---
NDC1	55706	broad.mit.edu	37	1	54262595	54262595	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:54262595G>A	ENST00000371429.3	-	12	2043	c.1445C>T	c.(1444-1446)cCa>cTa	p.P482L	NDC1_ENST00000537333.1_Missense_Mutation_p.P147L|NDC1_ENST00000234725.8_Missense_Mutation_p.P367L|NDC1_ENST00000540001.1_Missense_Mutation_p.P482L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	482					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.P482L(1)									CCACAATCTTGGCCCCCTTCT	0.408																																						uc001cvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1444-1446)CCA>CTA		transmembrane protein 48							68.0	67.0	67.0					1																	54262595		2203	4300	6503	SO:0001583	missense	55706				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore	g.chr1:54262595G>A	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1445C>T	1.37:g.54262595G>A	ENSP00000360483:p.Pro482Leu					TMEM48_uc010onu.1_Missense_Mutation_p.P442L|TMEM48_uc001cvt.2_Missense_Mutation_p.P359L|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Missense_Mutation_p.P147L	p.P482L	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN			12	1686	-			482			Cytoplasmic (Potential).		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.1445C>T	CCDS583.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980070	0.74474	.	.	ENSG00000058804	ENST00000371429;ENST00000540001;ENST00000537333;ENST00000234725	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.47	5.47	0.80525	.	0.252134	0.46442	D	0.000283	T	0.38799	0.1054	N	0.03608	-0.345	0.58432	D	0.999991	D;P	0.61697	0.99;0.94	P;P	0.61477	0.889;0.781	T	0.42932	-0.9422	10	0.25751	T	0.34	.	18.1496	0.89671	0.0:0.0:1.0:0.0	.	442;482	B4DHA3;Q9BTX1	.;NDC1_HUMAN	L	482;482;147;367	ENSP00000360483:P482L;ENSP00000440873:P482L;ENSP00000439947:P147L;ENSP00000234725:P367L	ENSP00000234725:P367L	P	-	2	0	TMEM48	54035183	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.527000	0.73803	2.868000	0.98415	0.555000	0.69702	CCA		PASS	0.408	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		83	96	83	96	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66064402	66064402	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:66064402G>T	ENST00000349533.6	+	8	1094	c.909G>T	c.(907-909)tcG>tcT	p.S303S	LEPR_ENST00000344610.8_Silent_p.S303S|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.S303S|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Silent_p.S303S|LEPR_ENST00000371059.3_Silent_p.S303S	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					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.S303S(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTGGGTCTTCGTATGAGGTTC	0.433																																						uc001dci.2																			3	Substitution - coding silent(3)	p.S303L(1)	lung(3)	skin(1)	1						c.(907-909)TCG>TCT		leptin receptor isoform 1							109.0	106.0	107.0					1																	66064402		2203	4300	6503	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66064402G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.909G>T	1.37:g.66064402G>T						LEPR_uc001dcg.2_Silent_p.S303S|LEPR_uc001dch.2_Silent_p.S303S|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.S303S|LEPR_uc001dck.2_Silent_p.S303S	p.S303S	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	8	1111	+			303			Extracellular (Potential).|Fibronectin type-III 1.		Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.909G>T	CCDS631.1																																																																																				PASS	0.433	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		57	64	57	64	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102258	66102258	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:66102258T>A	ENST00000349533.6	+	20	3243	c.3058T>A	c.(3058-3060)Ttg>Atg	p.L1020M	LEPR_ENST00000406510.3_Missense_Mutation_p.L87M	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					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.L1020M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAATTCTCCGTTGAAGGATTC	0.413																																						uc001dci.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3058-3060)TTG>ATG		leptin receptor isoform 1							67.0	73.0	71.0					1																	66102258		2201	4296	6497	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102258T>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3058T>A	1.37:g.66102258T>A	ENSP00000330393:p.Leu1020Met					LEPR_uc009waq.2_3'UTR	p.L1020M	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3260	+			1020			Cytoplasmic (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3058T>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.378842	0.24944	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.56941	0.43	5.93	-11.9	0.00025	.	0.867327	0.10230	N	0.699784	T	0.17662	0.0424	L	0.33485	1.01	0.09310	N	1	D	0.55385	0.971	P	0.47645	0.553	T	0.47195	-0.9136	10	0.49607	T	0.09	1.5247	6.8867	0.24206	0.0635:0.4067:0.3416:0.1882	.	1020	P48357	LEPR_HUMAN	M	1020;87	ENSP00000330393:L1020M	ENSP00000330393:L1020M	L	+	1	2	LEPR	65874846	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.507000	0.06352	-3.212000	0.00214	-1.082000	0.02213	TTG		PASS	0.413	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		46	171	46	171	---	---	---	---
IL23R	149233	broad.mit.edu	37	1	67724363	67724363	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:67724363A>C	ENST00000347310.5	+	11	1613	c.1442A>C	c.(1441-1443)aAc>aCc	p.N481T	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.N226T|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	481				N -> D (in Ref. 2; AAY18347). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.N481T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CCTGATCTCAACACTGGATAT	0.393																																						uc001ddo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1441-1443)AAC>ACC		interleukin 23 receptor precursor							78.0	79.0	79.0					1																	67724363		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724363A>C	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1442A>C	1.37:g.67724363A>C	ENSP00000321345:p.Asn481Thr					IL23R_uc009waz.2_Missense_Mutation_p.N278T|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.N79T|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.N63T|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.N227T|IL23R_uc010opn.1_Missense_Mutation_p.N326T|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Missense_Mutation_p.N278T|IL23R_uc010opt.1_Missense_Mutation_p.N122T|IL23R_uc010opu.1_Missense_Mutation_p.N177T|IL23R_uc010opv.1_Missense_Mutation_p.N239T|IL23R_uc010opw.1_Missense_Mutation_p.N116T|IL23R_uc010opx.1_Missense_Mutation_p.N122T|IL23R_uc010opy.1_Missense_Mutation_p.N248T|IL23R_uc010opz.1_Missense_Mutation_p.N122T|IL23R_uc010oqa.1_Missense_Mutation_p.N122T|IL23R_uc010oqb.1_Missense_Mutation_p.N310T|IL23R_uc010oqc.1_Missense_Mutation_p.N197T|IL23R_uc010oqd.1_Missense_Mutation_p.N116T|IL23R_uc010oqe.1_Missense_Mutation_p.N79T|IL23R_uc010oqf.1_Missense_Mutation_p.N79T|IL23R_uc010oqg.1_Missense_Mutation_p.N79T|IL23R_uc010oqh.1_Missense_Mutation_p.N122T|IL23R_uc001dds.2_Missense_Mutation_p.N226T|IL23R_uc001ddt.2_Missense_Mutation_p.N79T	p.N481T	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			11	1527	+			481	N -> D (in Ref. 2; AAY18347).		Cytoplasmic (Potential).		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.1442A>C	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.39|19.39	3.817673|3.817673	0.71028|0.71028	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000395227|ENST00000425614	T;T|.	0.38722|.	1.12;1.23|.	5.71|5.71	2.13|2.13	0.27403|0.27403	.|.	0.448391|.	0.23487|.	N|.	0.047642|.	T|T	0.23727|0.23727	0.0574|0.0574	L|L	0.56769|0.56769	1.78|1.78	0.28479|0.28479	N|N	0.915059|0.915059	B;P;P;P;B|.	0.36909|.	0.419;0.573;0.573;0.573;0.328|.	B;B;B;B;B|.	0.40901|.	0.168;0.343;0.168;0.23;0.178|.	T|T	0.17961|0.17961	-1.0352|-1.0352	10|5	0.36615|.	T|.	0.2|.	3.6456|3.6456	5.7686|5.7686	0.18241|0.18241	0.6228:0.0:0.3772:0.0|0.6228:0.0:0.3772:0.0	.|.	227;116;79;226;481|.	Q5VWK5-2;Q5VWK5-5;Q5VWK5-7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;IL23R_HUMAN|.	T|P	481;226|243	ENSP00000321345:N481T;ENSP00000378652:N226T|.	ENSP00000321345:N481T|.	N|T	+|+	2|1	0|0	IL23R|IL23R	67496951|67496951	0.000000|0.000000	0.05858|0.05858	0.995000|0.995000	0.50966|0.50966	0.944000|0.944000	0.59088|0.59088	-0.207000|-0.207000	0.09384|0.09384	0.457000|0.457000	0.26962|0.26962	0.528000|0.528000	0.53228|0.53228	AAC|ACA		PASS	0.393	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		61	81	61	81	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75036970	75036970	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:75036970C>T	ENST00000326665.5	-	14	4642	c.4424G>A	c.(4423-4425)cGa>cAa	p.R1475Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1475	Glu-rich.							p.R1475Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TAATCCTAATCGGAATTTTTC	0.562																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4423-4425)CGA>CAA		hypothetical protein LOC127254							136.0	120.0	125.0					1																	75036970		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75036970C>T																												ENST00000326665.5:c.4424G>A	1.37:g.75036970C>T	ENSP00000322609:p.Arg1475Gln						p.R1475Q	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4643	-			1475			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4424G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616961	0.28801	.	.	ENSG00000178965	ENST00000326665	T	0.15603	2.41	4.14	-1.27	0.09347	.	.	.	.	.	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	1	B	0.25719	0.132	B	0.19148	0.024	T	0.47341	-0.9125	9	0.10636	T	0.68	-0.0467	4.8698	0.13627	0.0:0.4402:0.2905:0.2693	.	1475	Q5RHP9	CA173_HUMAN	Q	1475	ENSP00000322609:R1475Q	ENSP00000322609:R1475Q	R	-	2	0	C1orf173	74809558	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.872000	0.28037	-0.486000	0.06744	-1.373000	0.01185	CGA		PASS	0.562	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			90	162	90	162	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75102088	75102088	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:75102088A>G	ENST00000326665.5	-	6	697	c.479T>C	c.(478-480)aTg>aCg	p.M160T	C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		160								p.M160T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGGAGGCTGCATATTTCCTGG	0.403																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(478-480)ATG>ACG		hypothetical protein LOC127254							215.0	224.0	221.0					1																	75102088		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75102088A>G																												ENST00000326665.5:c.479T>C	1.37:g.75102088A>G	ENSP00000322609:p.Met160Thr					C1orf173_uc001dgi.3_5'Flank	p.M160T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			6	698	-			160					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.479T>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067672	0.55539	.	.	ENSG00000178965	ENST00000326665	T	0.15718	2.4	5.35	4.23	0.50019	.	.	.	.	.	T	0.14356	0.0347	M	0.62723	1.935	0.80722	D	1	P	0.50528	0.936	P	0.50405	0.64	T	0.01834	-1.1264	9	0.37606	T	0.19	-9.5657	10.2666	0.43457	0.9208:0.0:0.0792:0.0	.	160	Q5RHP9	CA173_HUMAN	T	160	ENSP00000322609:M160T	ENSP00000322609:M160T	M	-	2	0	C1orf173	74874676	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.557000	0.53741	0.983000	0.38602	0.455000	0.32223	ATG		PASS	0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			62	289	62	289	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93712473	93712473	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:93712473G>A	ENST00000343253.7	+	23	3659	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K	CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.E1054K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E1172K|CCDC18_ENST00000334652.5_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1053								p.E1172K(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGGTACTCTGGAGAAATCAGA	0.249																																						uc001dpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(3514-3516)GAG>AAG		sarcoma antigen NY-SAR-41							52.0	52.0	52.0					1																	93712473		1785	4032	5817	SO:0001583	missense	343099							g.chr1:93712473G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3157G>A	1.37:g.93712473G>A	ENSP00000343377:p.Glu1053Lys					CCDC18_uc009wdl.1_Missense_Mutation_p.E689K	p.E1172K	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	23	3682	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	1053			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.3514G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.85|18.85	3.712258|3.712258	0.68730|0.68730	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	T;T|.	0.81163|.	-1.46;-1.46|.	5.24|5.24	4.31|4.31	0.51392|0.51392	.|.	0.056722|.	0.64402|.	D|.	0.000002|.	T|.	0.57975|.	0.2090|.	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B;P|.	0.44521|.	0.44;0.837|.	B;P|.	0.45276|.	0.182;0.475|.	T|.	0.58674|.	-0.7595|.	10|.	0.40728|.	T|.	0.16|.	.|.	15.9164|15.9164	0.79521|0.79521	0.0:0.1355:0.8645:0.0|0.0:0.1355:0.8645:0.0	.|.	1053;1172|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	K|X	1053;1054;1172|1106	ENSP00000383808:E1054K;ENSP00000451099:E1172K|.	ENSP00000343377:E1053K|.	E|W	+|+	1|3	0|0	CCDC18|CCDC18	93485061|93485061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.245000|3.245000	0.51407|0.51407	1.177000|1.177000	0.42855|0.42855	0.655000|0.655000	0.94253|0.94253	GAG|TGG		PASS	0.249	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		33	58	33	58	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94466451	94466451	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:94466451C>A	ENST00000370225.3	-	47	6506	c.6420G>T	c.(6418-6420)ctG>ctT	p.L2140L	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000535881.1_Silent_p.L259L|ABCA4_ENST00000536513.1_Silent_p.L410L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2140	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.L2140L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCATGATGGCCAGCCGGGTAC	0.582																																						uc001dqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(6418-6420)CTG>CTT		ATP-binding cassette, sub-family A member 4							150.0	116.0	128.0					1																	94466451		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466451C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6420G>T	1.37:g.94466451C>A							p.L2140L	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	47	6524	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2140			ABC transporter 2.|Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.6420G>T	CCDS747.1																																																																																				PASS	0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		26	112	26	112	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103356059	103356059	+	Splice_Site	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:103356059C>A	ENST00000370096.3	-	58	4616	c.4304G>T	c.(4303-4305)gGa>gTa	p.G1435V	COL11A1_ENST00000512756.1_Splice_Site_p.G1319V|COL11A1_ENST00000358392.2_Splice_Site_p.G1447V|COL11A1_ENST00000353414.4_Splice_Site_p.G1396V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1435	Collagen-like 6.|Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1447V(1)|p.G1447E(1)|p.G1435V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGGAGGTCCCTAAATAAT	0.333																																						uc001dul.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4303-4305)GGA>GTA		alpha 1 type XI collagen isoform A							32.0	31.0	32.0					1																	103356059		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103356059C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4303-1G>T	1.37:g.103356059C>A						COL11A1_uc001duk.2_Missense_Mutation_p.G631V|COL11A1_uc001dum.2_Missense_Mutation_p.G1447V|COL11A1_uc001dun.2_Missense_Mutation_p.G1396V|COL11A1_uc009weh.2_Missense_Mutation_p.G1319V	p.G1435V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	58	4622	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1435			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4304G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875415	0.72180	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97962	4.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.96749	0.9552	10	0.87932	D	0	.	19.7017	0.96057	0.0:1.0:0.0:0.0	.	1319;1396;1447;1435;655	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1435;1447;1396;655;1319	ENSP00000359114:G1435V;ENSP00000351163:G1447V;ENSP00000302551:G1396V;ENSP00000426533:G1319V	ENSP00000302551:G1396V	G	-	2	0	COL11A1	103128647	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.889000	0.69766	2.724000	0.93272	0.561000	0.74099	GGA		PASS	0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	11	13	11	13	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104122003	104122003	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:104122003A>G	ENST00000361355.4	+	12	2033	c.1417A>G	c.(1417-1419)Att>Gtt	p.I473V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	473					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.I473V(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGGAGATAAAATTAATGGCAA	0.343																																						uc001duq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)ATT>GTT		amylase, pancreatic, alpha-2B precursor							228.0	236.0	234.0					1																	104122003		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104122003A>G	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1417A>G	1.37:g.104122003A>G	ENSP00000354610:p.Ile473Val					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.I473V|AMY2B_uc001dus.1_Intron	p.I473V	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	12	2033	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	473					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1417A>G	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	6.392	0.440447	0.12104	.	.	ENSG00000240038	ENST00000361355	T	0.75821	-0.97	4.14	-0.724	0.11177	Alpha-amylase, C-terminal all beta (2);Glycosyl hydrolase, family 13, all-beta (1);	0.707453	0.13015	N	0.420592	T	0.16300	0.0392	N	0.01128	-1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37596	-0.9699	10	0.18276	T	0.48	.	5.675	0.17743	0.2684:0.3055:0.4261:0.0	.	473	P19961	AMY2B_HUMAN	V	473	ENSP00000354610:I473V	ENSP00000354610:I473V	I	+	1	0	AMY2B	103923526	0.003000	0.15002	0.192000	0.23308	0.904000	0.53231	-0.113000	0.10774	0.013000	0.14918	0.477000	0.44152	ATT		PASS	0.343	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		119	495	119	495	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118550726	118550726	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:118550726A>T	ENST00000336338.5	-	31	4593	c.4528T>A	c.(4528-4530)Tgc>Agc	p.C1510S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1510						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.C1510S(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)		GTGGCACAGCAGCTACTGTCC	0.512																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4528-4530)TGC>AGC		sperm associated antigen 17							153.0	125.0	135.0					1																	118550726		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118550726A>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.4528T>A	1.37:g.118550726A>T	ENSP00000337804:p.Cys1510Ser						p.C1510S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	31	4596	-	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)	1510					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4528T>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385653	0.82792	.	.	ENSG00000155761	ENST00000336338	T	0.21191	2.02	5.83	5.83	0.93111	.	0.093959	0.64402	D	0.000001	T	0.34424	0.0897	L	0.57536	1.79	0.43988	D	0.996685	D	0.89917	1.0	D	0.87578	0.998	T	0.10474	-1.0628	10	0.66056	D	0.02	.	15.1973	0.73104	1.0:0.0:0.0:0.0	.	1510	Q6Q759	SPG17_HUMAN	S	1510	ENSP00000337804:C1510S	ENSP00000337804:C1510S	C	-	1	0	SPAG17	118352249	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.558000	0.60789	2.231000	0.72958	0.460000	0.39030	TGC		PASS	0.512	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		16	97	16	97	---	---	---	---
RBM8A	9939	broad.mit.edu	37	1	145508257	145508257	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:145508257G>C	ENST00000330165.8	+	3	247	c.178G>C	c.(178-180)Gat>Cat	p.D60H	RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.D59H|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	60					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D60H(1)		kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGTGGAGCAGGATGGCGATGA	0.493																																						uc001ent.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)GAT>CAT		RNA binding motif protein 8A							113.0	113.0	113.0					1																	145508257		2203	4300	6503	SO:0001583	missense	9939				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr1:145508257G>C	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.178G>C	1.37:g.145508257G>C	ENSP00000333001:p.Asp60His					NBPF10_uc001emp.3_Intron|RBM8A_uc001enu.1_Missense_Mutation_p.D59H|RBM8A_uc001enw.1_5'Flank	p.D60H	NM_005105	NP_005096	Q9Y5S9	RBM8A_HUMAN			3	207	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		60					B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	c.178G>C	CCDS916.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062672	0.76187	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.17054	2.3;2.35	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	L	0.60455	1.87	0.80722	D	1	B;B	0.31290	0.318;0.136	B;B	0.27715	0.082;0.038	T	0.01810	-1.1269	10	0.72032	D	0.01	-13.3583	16.4914	0.84202	0.0:0.0:1.0:0.0	.	59;60	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	H	60;59	ENSP00000333001:D60H;ENSP00000358313:D59H	ENSP00000333001:D60H	D	+	1	0	RBM8A	144219614	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.030000	0.88816	2.764000	0.94973	0.555000	0.69702	GAT		PASS	0.493	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		76	52	76	52	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152327971	152327971	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:152327971C>T	ENST00000388718.5	-	3	2363	c.2291G>A	c.(2290-2292)aGa>aAa	p.R764K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	764	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R764K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCTGATCTAGACTCATG	0.507																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2290-2292)AGA>AAA		filaggrin family member 2							366.0	308.0	328.0					1																	152327971		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327971C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2291G>A	1.37:g.152327971C>T	ENSP00000373370:p.Arg764Lys					uc001ezv.2_Intron	p.R764K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2364	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		764			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2291G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.206	-0.631078	0.03584	.	.	ENSG00000143520	ENST00000388718	T	0.23147	1.92	3.03	2.11	0.27256	.	.	.	.	.	T	0.05914	0.0154	L	0.43152	1.355	0.09310	N	1	B	0.16166	0.016	B	0.12837	0.008	T	0.42699	-0.9436	9	0.09084	T	0.74	0.0989	7.5566	0.27827	0.0:0.8656:0.0:0.1344	.	764	Q5D862	FILA2_HUMAN	K	764	ENSP00000373370:R764K	ENSP00000373370:R764K	R	-	2	0	FLG2	150594595	0.234000	0.23783	0.000000	0.03702	0.003000	0.03518	0.997000	0.29731	0.484000	0.27630	0.603000	0.83216	AGA		PASS	0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		423	349	423	349	---	---	---	---
OR6Y1	391112	broad.mit.edu	37	1	158517648	158517648	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:158517648C>T	ENST00000302617.3	-	1	247	c.248G>A	c.(247-249)aGc>aAc	p.S83N		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S83N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CATCTTGGGGCTGATGACTGT	0.458																																						uc010pil.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(247-249)AGC>AAC		olfactory receptor, family 6, subfamily Y,							117.0	111.0	113.0					1																	158517648		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517648C>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.248G>A	1.37:g.158517648C>T	ENSP00000304807:p.Ser83Asn						p.S83N	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	248	-	all_hematologic(112;0.0378)		83			Extracellular (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.248G>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993220	0.35131	.	.	ENSG00000197532	ENST00000302617	T	0.01388	4.95	4.91	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000120	T	0.00496	0.0016	L	0.31476	0.935	0.09310	N	1	B	0.33413	0.411	B	0.23275	0.045	T	0.49969	-0.8882	10	0.66056	D	0.02	.	12.9176	0.58214	0.509:0.491:0.0:0.0	.	83	Q8NGX8	OR6Y1_HUMAN	N	83	ENSP00000304807:S83N	ENSP00000304807:S83N	S	-	2	0	OR6Y1	156784272	0.000000	0.05858	0.996000	0.52242	0.990000	0.78478	0.732000	0.26072	0.731000	0.32448	0.563000	0.77884	AGC		PASS	0.458	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		118	68	118	68	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160064721	160064721	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:160064721C>A	ENST00000368086.1	-	2	596	c.380G>T	c.(379-381)tGc>tTc	p.C127F	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.C127F			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	127	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.C127F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGGGGTGTGGCACTCATAAAT	0.652																																						uc001fva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)TGC>TTC		immunoglobulin superfamily, member 8							46.0	49.0	48.0					1																	160064721		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160064721C>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.380G>T	1.37:g.160064721C>A	ENSP00000357065:p.Cys127Phe					IGSF8_uc001fuz.2_Missense_Mutation_p.C127F|IGSF8_uc009wtf.2_Missense_Mutation_p.C127F	p.C127F	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	425	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		127			Ig-like C2-type 1.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.380G>T	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016278	0.75161	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.31247	1.5;1.5;1.5	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57734	-0.7760	10	0.87932	D	0	-16.4716	17.1985	0.86900	0.0:1.0:0.0:0.0	.	127	Q969P0	IGSF8_HUMAN	F	127	ENSP00000316664:C127F;ENSP00000357065:C127F;ENSP00000397464:C127F	ENSP00000316664:C127F	C	-	2	0	IGSF8	158331345	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.444000	0.80532	2.405000	0.81733	0.563000	0.77884	TGC		PASS	0.652	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		56	37	56	37	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160093179	160093179	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:160093179C>T	ENST00000361216.3	+	4	443	c.354C>T	c.(352-354)gcC>gcT	p.A118A	ATP1A2_ENST00000392233.3_Silent_p.A118A	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	118					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.A118A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCAGGCTGCCATGGAGGATG	0.612																																						uc001fvc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(352-354)GCC>GCT		Na+/K+ -ATPase alpha 2 subunit proprotein							142.0	143.0	143.0					1																	160093179		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093179C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.354C>T	1.37:g.160093179C>T						ATP1A2_uc001fvb.2_Silent_p.A118A|ATP1A2_uc010piz.1_5'Flank	p.A118A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	486	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		118			Extracellular (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.354C>T	CCDS1196.1																																																																																				PASS	0.612	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		196	96	196	96	---	---	---	---
SLC19A2	10560	broad.mit.edu	37	1	169437891	169437891	+	Missense_Mutation	SNP	G	G	T	rs554433074		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:169437891G>T	ENST00000236137.5	-	4	1450	c.1214C>A	c.(1213-1215)aCg>aAg	p.T405K	SLC19A2_ENST00000367804.4_Missense_Mutation_p.T204K	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	405					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)	p.T405K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CGTTGCTATCGTGATGAGTAA	0.363																																						uc001gge.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1213-1215)ACG>AAG		solute carrier family 19, member 2							130.0	114.0	119.0					1																	169437891		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169437891G>T	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1214C>A	1.37:g.169437891G>T	ENSP00000236137:p.Thr405Lys					SLC19A2_uc001ggf.3_Missense_Mutation_p.T204K	p.T405K	NM_006996	NP_008927	O60779	S19A2_HUMAN			4	1418	-	all_hematologic(923;0.208)		405			Helical; (Potential).		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.1214C>A	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040657	0.93685	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.90955	-2.76;-2.76;-2.76	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.92268	3.29	0.48135	D	0.999594	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	D	0.96766	0.9565	9	0.72032	D	0.01	-15.6841	19.8579	0.96771	0.0:0.0:1.0:0.0	.	204;405	O60779-2;O60779	.;S19A2_HUMAN	K	405;204;367	ENSP00000236137:T405K;ENSP00000356778:T204K;ENSP00000356776:T367K	ENSP00000236137:T405K	T	-	2	0	SLC19A2	167704515	1.000000	0.71417	0.967000	0.41034	0.972000	0.66771	9.476000	0.97823	2.687000	0.91594	0.655000	0.94253	ACG		PASS	0.363	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		81	45	81	45	---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184690515	184690515	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:184690515C>T	ENST00000318130.8	-	9	1125	c.859G>A	c.(859-861)Gga>Aga	p.G287R	EDEM3_ENST00000367512.3_Missense_Mutation_p.G244R	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	287					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.G244R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTCCAACTCCACTATCTATG	0.294																																						uc010pok.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(859-861)GGA>AGA		ER degradation enhancer, mannosidase alpha-like							52.0	54.0	53.0					1																	184690515		2201	4295	6496	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184690515C>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.859G>A	1.37:g.184690515C>T	ENSP00000318147:p.Gly287Arg					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.G287R|EDEM3_uc001gqy.2_Missense_Mutation_p.G210R	p.G287R	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			9	1120	-			287					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.859G>A	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611378	0.87258	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.46063	0.88;0.88	5.38	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65800	-0.6080	10	0.87932	D	0	.	14.3869	0.66949	0.0:0.9289:0.0:0.0711	.	287;244	Q9BZQ6;B7ZLZ2	EDEM3_HUMAN;.	R	287;244	ENSP00000318147:G287R;ENSP00000356482:G244R	ENSP00000318147:G287R	G	-	1	0	EDEM3	182957138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.623000	0.83113	1.410000	0.46936	0.655000	0.94253	GGA		PASS	0.294	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		48	47	48	47	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197070287	197070287	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:197070287G>C	ENST00000367409.4	-	18	8350	c.8094C>G	c.(8092-8094)ttC>ttG	p.F2698L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2698	IQ 30. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.F2698L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCATTCGATAGAATGACTGAA	0.348																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(8092-8094)TTC>TTG		asp (abnormal spindle)-like, microcephaly							49.0	48.0	49.0					1																	197070287		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070287G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8094C>G	1.37:g.197070287G>C	ENSP00000356379:p.Phe2698Leu					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.F546L	p.F2698L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8351	-			2698			IQ 30.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8094C>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	7.542	0.660806	0.14645	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.25912	1.77	5.06	-1.24	0.09435	.	0.886174	0.09732	N	0.763069	T	0.24547	0.0595	L	0.28014	0.82	0.47341	D	0.99939	D;B	0.61697	0.99;0.0	D;B	0.69307	0.963;0.006	T	0.53472	-0.8434	10	0.11485	T	0.65	.	1.0932	0.01668	0.1652:0.2313:0.2499:0.3536	.	684;2698	E7EQ84;Q8IZT6	.;ASPM_HUMAN	L	2698;684	ENSP00000356379:F2698L	ENSP00000356376:F684L	F	-	3	2	ASPM	195336910	0.004000	0.15560	0.002000	0.10522	0.937000	0.57800	-0.145000	0.10265	-0.453000	0.07076	-0.321000	0.08615	TTC		PASS	0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		81	38	81	38	---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205496951	205496951	+	Silent	SNP	C	C	T	rs139419406	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:205496951C>T	ENST00000360066.2	+	9	1060	c.759C>T	c.(757-759)ctC>ctT	p.L253L	CDK18_ENST00000429964.2_Silent_p.L253L|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L283L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L283L(2)|p.L253L(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TCCGGGGCCTCGCCTACTGTC	0.622																																					Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2																			4	Substitution - coding silent(4)		lung(4)	stomach(2)	2						c.(847-849)CTC>CTT		PCTAIRE protein kinase 3 isoform a		G	,,	1,4405	2.1+/-5.4	0,1,2202	88.0	87.0	87.0		759,759,849	-3.9	1.0	1	dbSNP_134	87	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	CDK18	NM_002596.3,NM_212502.2,NM_212503.2	,,	0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615	,,	253/475,253/475,283/505	205496951	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205496951C>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.759C>T	1.37:g.205496951C>T						CDK18_uc001hcp.2_Silent_p.L253L|CDK18_uc001hcq.2_Silent_p.L253L|CDK18_uc010prj.1_Silent_p.L164L|CDK18_uc001hcs.2_Silent_p.L164L|CDK18_uc009xbm.1_Silent_p.L178L|CDK18_uc001hct.2_5'Flank	p.L283L	NM_212503	NP_997668	Q07002	CDK18_HUMAN			9	1068	+			251			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.849C>T	CCDS44300.1																																																																																				PASS	0.622	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		16	153	16	153	---	---	---	---
CTSE	1510	broad.mit.edu	37	1	206331026	206331026	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:206331026C>T	ENST00000360218.2	+	8	994	c.890C>T	c.(889-891)tCg>tTg	p.S297L	CTSE_ENST00000358184.2_Silent_p.F344F|CTSE_ENST00000432969.2_Missense_Mutation_p.S222L|CTSE_ENST00000361052.3_Silent_p.F349F	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.S297L(1)|p.F344F(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CACAGGACTTCGTGGATGGAA	0.557																																						uc001hdu.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(1030-1032)TTC>TTT		cathepsin E isoform a preproprotein							187.0	183.0	184.0					1																	206331026		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206331026C>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000360218.2:c.890C>T	1.37:g.206331026C>T	ENSP00000353350:p.Ser297Leu					CTSE_uc001hdv.2_Missense_Mutation_p.S297L|CTSE_uc010prs.1_Missense_Mutation_p.S222L	p.F344F	NM_001910	NP_001901	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		9	1150	+			349					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Silent	SNP	ENST00000360218.2	37	c.1032C>T	CCDS1461.1	.	.	.	.	.	.	.	.	.	.	c	9.742	1.165133	0.21538	.	.	ENSG00000196188	ENST00000360218;ENST00000432969	T;T	0.64991	0.55;-0.13	4.98	-9.48	0.00591	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.32719	-0.9896	8	0.62326	D	0.03	.	2.7003	0.05146	0.1562:0.1927:0.1607:0.4905	.	222;297	B4DNU8;P14091-2	.;.	L	297;222	ENSP00000353350:S297L;ENSP00000394607:S222L	ENSP00000353350:S297L	S	+	2	0	CTSE	204497649	0.000000	0.05858	0.008000	0.14137	0.399000	0.30720	-4.309000	0.00255	-1.870000	0.01139	-0.269000	0.10298	TCG		PASS	0.557	CTSE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087999.1	NM_001910		307	160	307	160	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216498934	216498934	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:216498934G>C	ENST00000307340.3	-	6	1242	c.856C>G	c.(856-858)Ctg>Gtg	p.L286V	USH2A_ENST00000366943.2_Missense_Mutation_p.L286V|USH2A_ENST00000366942.3_Missense_Mutation_p.L286V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	286	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L286V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGACTTCCAGAATCTCTCTG	0.498										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(856-858)CTG>GTG		usherin isoform B							31.0	31.0	31.0					1																	216498934		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498934G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.856C>G	1.37:g.216498934G>C	ENSP00000305941:p.Leu286Val	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.L286V	p.L286V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1243	-			286			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.856C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	4.043	0.005696	0.07866	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.63913	-0.07;-0.07;-0.07	5.21	-0.304	0.12788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin, N-terminal (2);	0.792750	0.10164	N	0.707967	T	0.52191	0.1719	L	0.57536	1.79	0.24770	N	0.992876	B;B	0.31655	0.045;0.334	B;B	0.36959	0.046;0.237	T	0.42224	-0.9464	10	0.16896	T	0.51	.	2.9498	0.05858	0.1105:0.1352:0.2059:0.5484	.	286;286	O75445-2;O75445	.;USH2A_HUMAN	V	286	ENSP00000305941:L286V;ENSP00000355910:L286V;ENSP00000355909:L286V	ENSP00000305941:L286V	L	-	1	2	USH2A	214565557	0.102000	0.21896	0.283000	0.24790	0.170000	0.22686	0.360000	0.20250	0.194000	0.20326	-0.188000	0.12872	CTG		PASS	0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		37	33	37	33	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222717104	222717104	+	Missense_Mutation	SNP	C	C	T	rs147794680		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:222717104C>T	ENST00000343410.6	-	2	807	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	250					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R250H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCTCCAGGCGACTCCCATC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17632	0.0		0.0	False		,,,				2504	0.0					uc001hnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(748-750)CGC>CAC		HHIP-like 2 precursor		C	HIS/ARG	0,4406		0,0,2203	91.0	85.0	87.0		749	4.4	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	HHIPL2	NM_024746.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	250/725	222717104	1,13005	2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717104C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.749G>A	1.37:g.222717104C>T	ENSP00000342118:p.Arg250His						p.R250H	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	807	-			250					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.749G>A	CCDS1530.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.9	4.061016	0.76074	0.0	1.16E-4	ENSG00000143512	ENST00000343410	T	0.11930	2.73	5.31	4.4	0.53042	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.055311	0.64402	D	0.000001	T	0.36663	0.0975	M	0.73962	2.25	0.50813	D	0.999898	D	0.89917	1.0	D	0.83275	0.996	T	0.13282	-1.0515	10	0.51188	T	0.08	-18.9971	13.5661	0.61819	0.0:0.9239:0.0:0.0761	.	250	Q6UWX4	HIPL2_HUMAN	H	250	ENSP00000342118:R250H	ENSP00000342118:R250H	R	-	2	0	HHIPL2	220783727	0.992000	0.36948	0.995000	0.50966	0.822000	0.46500	4.586000	0.60984	1.224000	0.43551	0.467000	0.42956	CGC		PASS	0.582	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		16	116	16	116	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228468283	228468283	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:228468283C>T	ENST00000422127.1	+	30	8027	c.7983C>T	c.(7981-7983)cgC>cgT	p.R2661R	OBSCN_ENST00000570156.2_Silent_p.R3090R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.R1508R|OBSCN_ENST00000284548.11_Silent_p.R2661R|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2661	Ig-like 26.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R2845R(1)|p.R2661R(1)|p.R2715R(1)|p.R2944R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGGAGCGCGGCACCCTGG	0.642																																						uc009xez.1																			4	Substitution - coding silent(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(7981-7983)CGC>CGT		obscurin, cytoskeletal calmodulin and							52.0	60.0	57.0					1																	228468283		2172	4273	6445	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228468283C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7983C>T	1.37:g.228468283C>T						OBSCN_uc001hsn.2_Silent_p.R2661R|OBSCN_uc001hsp.1_Silent_p.R360R|OBSCN_uc001hsq.1_5'UTR	p.R2661R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			30	8027	+		Prostate(94;0.0405)	2661			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.7983C>T	CCDS58065.1																																																																																				PASS	0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	69	15	69	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237787170	237787170	+	Splice_Site	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:237787170G>T	ENST00000366574.2	+	39	6339	c.6022G>T	c.(6022-6024)Gga>Tga	p.G2008*	RYR2_ENST00000360064.6_Splice_Site_p.G2006*|RYR2_ENST00000542537.1_Splice_Site_p.G1992*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2008	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G2006*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACACATTGTGGTAAGGTCTT	0.308																																						uc001hyl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6022-6024)GGA>TGA		cardiac muscle ryanodine receptor							98.0	95.0	96.0					1																	237787170		1817	4074	5891	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237787170G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6022+1G>T	1.37:g.237787170G>T							p.G2008*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6142	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2008			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.6022G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	47	13.750550	0.99761	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.34	5.34	0.76211	.	0.087235	0.43919	U	0.000509	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.456	0.94889	0.0:0.0:1.0:0.0	.	.	.	.	X	2008;2006;1992	.	ENSP00000353174:G2006X	G	+	1	0	RYR2	235853793	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.731000	0.98807	2.660000	0.90430	0.650000	0.86243	GGA		PASS	0.308	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Nonsense_Mutation	74	41	74	41	---	---	---	---
OR2M4	26245	broad.mit.edu	37	1	248403015	248403015	+	Missense_Mutation	SNP	C	C	T	rs41303133	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:248403015C>T	ENST00000306687.1	+	1	785	c.785C>T	c.(784-786)cCa>cTa	p.P262L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	262					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P262L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACATGAGACCAGCTTCTAAA	0.522																																						uc010pzh.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(784-786)CCA>CTA		olfactory receptor, family 2, subfamily M,							134.0	115.0	122.0					1																	248403015		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403015C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.785C>T	1.37:g.248403015C>T	ENSP00000306688:p.Pro262Leu						p.P262L	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	785	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		262			Extracellular (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.785C>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	14.64	2.595139	0.46318	.	.	ENSG00000171180	ENST00000306687	T	0.00279	8.33	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000809	T	0.00666	0.0022	M	0.84846	2.72	0.09310	N	1	D	0.60575	0.988	D	0.64877	0.93	T	0.32693	-0.9897	10	0.72032	D	0.01	.	13.919	0.63919	0.0:1.0:0.0:0.0	.	262	Q96R27	OR2M4_HUMAN	L	262	ENSP00000306688:P262L	ENSP00000306688:P262L	P	+	2	0	OR2M4	246469638	0.009000	0.17119	0.940000	0.37924	0.874000	0.50279	0.788000	0.26872	1.840000	0.53500	0.543000	0.68304	CCA		PASS	0.522	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		87	48	87	48	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685215	248685215	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr1:248685215A>G	ENST00000343414.4	+	1	300	c.268A>G	c.(268-270)Aaa>Gaa	p.K90E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K90E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGAAAGACAAAACCATGAG	0.517																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(268-270)AAA>GAA		olfactory receptor, family 2, subfamily G,							123.0	118.0	119.0					1																	248685215		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685215A>G		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.268A>G	1.37:g.248685215A>G	ENSP00000341291:p.Lys90Glu						p.K90E	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	268	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	90			Extracellular (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.268A>G	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	10.69	1.422297	0.25639	.	.	ENSG00000188558	ENST00000343414	T	0.38560	1.13	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	U	0.000268	T	0.66489	0.2794	M	0.90650	3.135	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59386	-0.7464	10	0.87932	D	0	.	8.4445	0.32834	0.8029:0.1971:0.0:0.0	.	90	Q5TZ20	OR2G6_HUMAN	E	90	ENSP00000341291:K90E	ENSP00000341291:K90E	K	+	1	0	OR2G6	246751838	0.013000	0.17824	0.007000	0.13788	0.093000	0.18481	2.670000	0.46833	1.523000	0.49018	0.329000	0.21502	AAA		PASS	0.517	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		15	171	15	171	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1488494	1488494	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:1488494G>A	ENST00000345913.4	+	9	1556	c.1465G>A	c.(1465-1467)Gcc>Acc	p.A489T	TPO_ENST00000382201.3_Missense_Mutation_p.A489T|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.A489T|TPO_ENST00000337415.3_Missense_Mutation_p.A489T|TPO_ENST00000329066.4_Missense_Mutation_p.A489T|TPO_ENST00000382198.1_Missense_Mutation_p.A316T|TPO_ENST00000349624.3_Missense_Mutation_p.A316T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	489					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.A489T(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCCACAGCCGCCTTCCGCTT	0.662																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1465-1467)GCC>ACC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						67.0	63.0	64.0					2																	1488494		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488494G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1465G>A	2.37:g.1488494G>A	ENSP00000318820:p.Ala489Thr					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.A489T|TPO_uc002qwr.2_Missense_Mutation_p.A489T|TPO_uc002qwx.2_Missense_Mutation_p.A489T|TPO_uc010yio.1_Missense_Mutation_p.A316T|TPO_uc010yip.1_Missense_Mutation_p.A489T|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	p.A489T	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1556	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	489			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1465G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	g	35	5.434134	0.96150	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94370	0.7595	10	0.87932	D	0	-41.3129	18.96	0.92674	0.0:0.0:1.0:0.0	.	489;316;489;489	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	T	489;489;489;316;489;489;316;418;20	ENSP00000337263:A489T;ENSP00000318820:A489T;ENSP00000263886:A489T;ENSP00000332044:A316T;ENSP00000329869:A489T;ENSP00000371636:A489T;ENSP00000371633:A316T;ENSP00000405788:A418T;ENSP00000419461:A20T	ENSP00000329869:A489T	A	+	1	0	TPO	1467501	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	9.431000	0.97494	2.469000	0.83416	0.556000	0.70494	GCC		PASS	0.662	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		11	75	11	75	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11758655	11758655	+	Silent	SNP	G	G	A	rs370883365		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:11758655G>A	ENST00000381486.2	+	22	3954	c.3654G>A	c.(3652-3654)tcG>tcA	p.S1218S	GREB1_ENST00000396123.1_Silent_p.S216S|GREB1_ENST00000234142.5_Silent_p.S1218S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1218	Ser-rich.					integral component of membrane (GO:0016021)		p.S1218S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCACCTCGTCGTGCTCCCAGC	0.701																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3652-3654)TCG>TCA		growth regulation by estrogen in breast cancer 1		G		0,4372		0,0,2186	16.0	20.0	18.0		3654	-6.0	0.0	2		18	1,8515		0,1,4257	no	coding-synonymous	GREB1	NM_014668.3		0,1,6443	AA,AG,GG		0.0117,0.0,0.0078		1218/1950	11758655	1,12887	2186	4258	6444	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11758655G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3654G>A	2.37:g.11758655G>A						GREB1_uc002rbp.1_Silent_p.S216S	p.S1218S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	22	3954	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1218			Ser-rich.		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.3654G>A	CCDS42655.1																																																																																				PASS	0.701	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	18	6	18	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20132098	20132098	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:20132098T>C	ENST00000345530.3	-	24	2917	c.2802A>G	c.(2800-2802)atA>atG	p.I934M	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.I923M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	934					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.I934M(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAGAGTTCTATGGCATCAA	0.328																																						uc002rdi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2800-2802)ATA>ATG		WD repeat domain 35 isoform 1							116.0	114.0	115.0					2																	20132098		2202	4299	6501	SO:0001583	missense	57539							g.chr2:20132098T>C	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2802A>G	2.37:g.20132098T>C	ENSP00000314444:p.Ile934Met					WDR35_uc002rdj.2_Missense_Mutation_p.I923M|WDR35_uc010ext.2_Intron|WDR35_uc002rdh.2_Intron	p.I934M	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			24	2910	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		934					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2802A>G	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.293951	0.60086	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.27256	1.68;1.68	5.16	0.849	0.18972	.	0.147759	0.64402	D	0.000014	T	0.35998	0.0951	M	0.71581	2.175	0.80722	D	1	P;P	0.51653	0.677;0.947	P;P	0.56127	0.655;0.792	T	0.08269	-1.0730	10	0.48119	T	0.1	-10.7223	5.9673	0.19332	0.2643:0.0:0.2573:0.4783	.	923;934	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	M	934;923	ENSP00000314444:I934M;ENSP00000281405:I923M	ENSP00000281405:I923M	I	-	3	3	WDR35	19995579	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.697000	0.25556	0.310000	0.22990	0.533000	0.62120	ATA		PASS	0.328	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		22	120	22	120	---	---	---	---
CAD	790	broad.mit.edu	37	2	27447965	27447965	+	Missense_Mutation	SNP	G	G	T	rs577259994		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:27447965G>T	ENST00000403525.1	+	11	1618	c.1474G>T	c.(1474-1476)Ggg>Tgg	p.G492W	CAD_ENST00000264705.4_Missense_Mutation_p.G492W			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.G492W(2)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCAAGGCCGGGGTGCTGGC	0.592																																						uc002rji.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1474-1476)GGG>TGG		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						71.0	68.0	69.0					2																	27447965		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447965G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1474G>T	2.37:g.27447965G>T	ENSP00000384510:p.Gly492Trp					CAD_uc010eyw.2_Missense_Mutation_p.G492W	p.G492W	NM_004341	NP_004332	P27708	PYR1_HUMAN			11	1636	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		492			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1474G>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.321443	0.81580	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97710	-4.5;-4.5	5.54	4.67	0.58626	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.213937	0.50627	D	0.000116	D	0.99318	0.9761	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98181	1.0457	10	0.87932	D	0	-8.5201	12.8711	0.57965	0.0794:0.0:0.9206:0.0	.	492;492	F8VPD4;P27708	.;PYR1_HUMAN	W	492	ENSP00000264705:G492W;ENSP00000384510:G492W	ENSP00000264705:G492W	G	+	1	0	CAD	27301469	1.000000	0.71417	0.024000	0.17045	0.964000	0.63967	7.438000	0.80431	1.344000	0.45657	0.462000	0.41574	GGG		PASS	0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			3	82	3	82	---	---	---	---
GCKR	2646	broad.mit.edu	37	2	27741665	27741665	+	Missense_Mutation	SNP	G	G	T	rs141361209	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:27741665G>T	ENST00000264717.2	+	17	1496	c.1433G>T	c.(1432-1434)cGt>cTt	p.R478L	GCKR_ENST00000424318.2_Missense_Mutation_p.R288L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	478	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.R478L(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AAGTTCCAGCGTGAGCTAAGC	0.473																																						uc002rky.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1432-1434)CGT>CTT		glucokinase regulatory protein							105.0	101.0	103.0					2																	27741665		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27741665G>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1433G>T	2.37:g.27741665G>T	ENSP00000264717:p.Arg478Leu					GCKR_uc010ezd.2_Missense_Mutation_p.R476L|GCKR_uc010ylu.1_Missense_Mutation_p.R288L	p.R478L	NM_001486	NP_001477	Q14397	GCKR_HUMAN			17	1499	+	Acute lymphoblastic leukemia(172;0.155)		478			SIS 2.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1433G>T	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	6.318	0.426804	0.11987	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	D;D	0.82255	-1.59;-1.59	3.76	1.18	0.20946	Sugar isomerase (SIS) (1);	0.265072	0.33075	N	0.005308	T	0.72637	0.3485	L	0.51422	1.61	0.30520	N	0.768505	B;B;B	0.30973	0.302;0.002;0.002	B;B;B	0.31495	0.131;0.002;0.002	T	0.62034	-0.6939	10	0.08179	T	0.78	0.0223	9.1221	0.36793	0.1699:0.0:0.8301:0.0	.	288;476;478	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	L	478;288	ENSP00000264717:R478L;ENSP00000409109:R288L	ENSP00000264717:R478L	R	+	2	0	GCKR	27595169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.557000	0.36299	0.269000	0.21961	0.561000	0.74099	CGT		PASS	0.473	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		41	184	41	184	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32820187	32820187	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:32820187G>T	ENST00000421745.2	+	68	13722	c.13588G>T	c.(13588-13590)Gct>Tct	p.A4530S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4530					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A4502S(1)|p.A4530S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAAATATGTGGCTGTTATGAA	0.303																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(13588-13590)GCT>TCT		baculoviral IAP repeat-containing 6							38.0	42.0	40.0					2																	32820187		2203	4295	6498	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32820187G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13588G>T	2.37:g.32820187G>T	ENSP00000393596:p.Ala4530Ser						p.A4530S	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			68	13722	+	Acute lymphoblastic leukemia(172;0.155)		4530					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13588G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309304	0.60414	.	.	ENSG00000115760	ENST00000421745	T	0.74106	-0.81	5.11	5.11	0.69529	Ubiquitin-conjugating enzyme/RWD-like (1);	0.056251	0.64402	D	0.000001	T	0.66446	0.2790	L	0.36672	1.1	0.58432	D	0.999994	B	0.02656	0.0	B	0.06405	0.002	T	0.60850	-0.7181	10	0.20046	T	0.44	.	18.5229	0.90960	0.0:0.0:1.0:0.0	.	4530	Q9NR09	BIRC6_HUMAN	S	4530	ENSP00000393596:A4530S	ENSP00000393596:A4530S	A	+	1	0	BIRC6	32673691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.749000	0.85096	2.367000	0.80283	0.650000	0.86243	GCT		PASS	0.303	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		11	21	11	21	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43768330	43768330	+	Missense_Mutation	SNP	C	C	G	rs188031118		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:43768330C>G	ENST00000405006.4	-	21	3583	c.3232G>C	c.(3232-3234)Gaa>Caa	p.E1078Q	THADA_ENST00000405975.2_Missense_Mutation_p.E1078Q|THADA_ENST00000330266.7_Missense_Mutation_p.E788Q|THADA_ENST00000415080.2_Missense_Mutation_p.E788Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1078								p.E1078Q(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCAGAAGATTCTGGCACAGGC	0.418																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3232-3234)GAA>CAA		thyroid adenoma associated							111.0	108.0	109.0					2																	43768330		1956	4164	6120	SO:0001583	missense	63892						binding	g.chr2:43768330C>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3232G>C	2.37:g.43768330C>G	ENSP00000385995:p.Glu1078Gln					THADA_uc010far.2_Missense_Mutation_p.E347Q|THADA_uc002rsx.3_Missense_Mutation_p.E1078Q|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.E787Q|THADA_uc010fat.1_Missense_Mutation_p.E225Q|THADA_uc002rta.2_Missense_Mutation_p.E788Q	p.E1078Q	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			21	3584	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1078					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3232G>C	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.34|13.34	2.206603|2.206603	0.39003|0.39003	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.395933|.	0.27730|.	N|.	0.018090|.	T|T	0.42743|0.42743	0.1216|0.1216	N|N	0.17631|0.17631	0.505|0.505	0.30582|0.30582	N|N	0.762463|0.762463	B;B;B;B|.	0.24186|.	0.007;0.099;0.008;0.016|.	B;B;B;B|.	0.31442|.	0.01;0.13;0.018;0.019|.	T|T	0.39251|0.39251	-0.9623|-0.9623	10|5	0.37606|.	T|.	0.19|.	.|.	17.2093|17.2093	0.86926|0.86926	0.0:0.8744:0.1256:0.0|0.0:0.8744:0.1256:0.0	.|.	788;1079;788;1078|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	Q|H	788;1078;1079;788;1078|391	ENSP00000331105:E788Q;ENSP00000386088:E1078Q;ENSP00000416048:E788Q;ENSP00000385995:E1078Q|.	ENSP00000331105:E788Q|.	E|Q	-|-	1|3	0|2	THADA|THADA	43621834|43621834	0.786000|0.786000	0.28738|0.28738	0.972000|0.972000	0.41901|0.41901	0.987000|0.987000	0.75469|0.75469	2.203000|2.203000	0.42752|0.42752	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GAA|CAG		PASS	0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		43	132	43	132	---	---	---	---
C1D	10438	broad.mit.edu	37	2	68270067	68270067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:68270067G>T	ENST00000355848.3	-	5	427	c.380C>A	c.(379-381)tCg>tAg	p.S127*	C1D_ENST00000410067.3_Nonsense_Mutation_p.S127*|C1D_ENST00000407324.1_Nonsense_Mutation_p.S166*|C1D_ENST00000409302.1_Nonsense_Mutation_p.S127*			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	127	Interaction with NCOR1 and NCOR2. {ECO:0000250}.		S -> P (in dbSNP:rs10444).		apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)	p.S127*(1)		lung(2)|urinary_tract(1)	3						TGCATTTTTCGATTTTGGTTC	0.393																																						uc002sea.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(379-381)TCG>TAG		nuclear DNA-binding protein							23.0	27.0	25.0					2																	68270067		2196	4295	6491	SO:0001587	stop_gained	10438				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding	g.chr2:68270067G>T		CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"""small unique nuclear receptor co-repressor"""	606997	"""C1D nuclear receptor co-repressor"""			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.380C>A	2.37:g.68270067G>T	ENSP00000348107:p.Ser127*					C1D_uc002seb.2_Nonsense_Mutation_p.S127*|C1D_uc002sec.2_Nonsense_Mutation_p.S127*|C1D_uc010fdc.2_Nonsense_Mutation_p.S127*	p.S127*	NM_173177	NP_775269	Q13901	C1D_HUMAN			5	462	-			127			Interaction with NCOR1 and NCOR2 (By similarity).		A8K336|D6W5F8|Q05D64	Nonsense_Mutation	SNP	ENST00000355848.3	37	c.380C>A	CCDS1883.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529760	0.27387	.	.	ENSG00000197223	ENST00000355848;ENST00000407324;ENST00000410067;ENST00000409302	.	.	.	5.33	5.33	0.75918	.	0.466924	0.26055	N	0.026605	.	.	.	.	.	.	0.49687	D	0.99981	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	19.3831	0.94545	0.0:0.0:1.0:0.0	.	.	.	.	X	127;166;127;127	.	ENSP00000348107:S127X	S	-	2	0	C1D	68123571	0.026000	0.19158	0.231000	0.23993	0.050000	0.14768	2.154000	0.42291	2.642000	0.89623	0.467000	0.42956	TCG		PASS	0.393	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	NM_006333		12	40	12	40	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74043430	74043430	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:74043430C>T	ENST00000409561.1	+	3	2201	c.2080C>T	c.(2080-2082)Cta>Tta	p.L694L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	694								p.L694L(1)|p.L664L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGCCCAGAAACTAGATGGTAG	0.502																																						uc002sjr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2080-2082)CTA>TTA		hypothetical protein LOC388960							81.0	82.0	82.0					2																	74043430		1941	4130	6071	SO:0001819	synonymous_variant	388960							g.chr2:74043430C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2080C>T	2.37:g.74043430C>T							p.L694L	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2201	+			694						Silent	SNP	ENST00000409561.1	37	c.2080C>T	CCDS46338.1																																																																																				PASS	0.502	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		48	68	48	68	---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74756577	74756577	+	5'UTR	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:74756577C>T	ENST00000258080.3	+	0	74				AUP1_ENST00000377526.3_Missense_Mutation_p.V34I|HTRA2_ENST00000352222.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.V34I(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CAGAACCCGACTGGCGCGTAG	0.677																																						uc010yry.1																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)GTC>ATC		SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;							25.0	37.0	33.0					2																	74756577		2148	4246	6394	SO:0001623	5_prime_UTR_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756577C>T		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-557C>T	2.37:g.74756577C>T						AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Missense_Mutation_p.V34I|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Silent_p.Q64Q|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.V34I			Q9Y679	AUP1_HUMAN			2	318	-			34			Helical; Signal-anchor for type III membrane protein; (Potential).		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.100G>A	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657202	0.29425	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.94232	-3.38	5.57	3.78	0.43462	.	0.067346	0.64402	N	0.000014	D	0.85423	0.5693	L	0.28192	0.835	0.80722	D	1	B;B	0.14438	0.01;0.002	B;B	0.13407	0.009;0.003	T	0.75079	-0.3444	10	0.19590	T	0.45	-13.5484	6.0304	0.19677	0.0:0.677:0.1554:0.1676	.	34;34	B4DW71;Q9Y679-2	.;.	I	34	ENSP00000366748:V34I	ENSP00000258081:V34I	V	-	1	0	AUP1	74610085	0.973000	0.33851	0.939000	0.37840	0.683000	0.39861	2.348000	0.44045	0.719000	0.32188	0.561000	0.74099	GTC		PASS	0.677	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		3	4	3	4	---	---	---	---
M1AP	130951	broad.mit.edu	37	2	74789483	74789483	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:74789483G>C	ENST00000290536.5	-	8	1258	c.1142C>G	c.(1141-1143)gCc>gGc	p.A381G	M1AP_ENST00000536235.1_Missense_Mutation_p.A381G|M1AP_ENST00000409585.1_Missense_Mutation_p.A381G|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Intron	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	381					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A381G(1)									GAAGGTGCTGGCAGGAATTCT	0.557																																						uc002smy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1141-1143)GCC>GGC		hypothetical protein LOC130951							214.0	175.0	188.0					2																	74789483		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74789483G>C		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1142C>G	2.37:g.74789483G>C	ENSP00000290536:p.Ala381Gly					C2orf65_uc010ysa.1_Missense_Mutation_p.A381G|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.A137G	p.A381G	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			8	1259	-			381					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1142C>G	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137014	0.56936	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.50813	0.73;0.73;0.73	5.41	5.41	0.78517	.	0.212618	0.41500	D	0.000873	T	0.43678	0.1258	L	0.44542	1.39	0.80722	D	1	P;P;P	0.45902	0.634;0.634;0.868	B;B;B	0.41510	0.124;0.124;0.359	T	0.48747	-0.9008	10	0.87932	D	0	-13.1504	14.7033	0.69171	0.0:0.0:1.0:0.0	.	381;381;137	E9PGG8;Q8TC57;B3KX03	.;CB065_HUMAN;.	G	381	ENSP00000290536:A381G;ENSP00000386793:A381G;ENSP00000445662:A381G	ENSP00000290536:A381G	A	-	2	0	C2orf65	74642991	0.997000	0.39634	0.990000	0.47175	0.759000	0.43091	3.219000	0.51200	2.535000	0.85469	0.655000	0.94253	GCC		PASS	0.557	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		49	135	49	135	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79313628	79313628	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:79313628G>T	ENST00000305089.3	-	4	266	c.186C>A	c.(184-186)ctC>ctA	p.L62L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	62	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.L62L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCTGGCAATAGAGCTGTTGGA	0.498																																						uc002sny.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(184-186)CTC>CTA		regenerating islet-derived 1 beta precursor							108.0	104.0	105.0					2																	79313628		2203	4300	6503	SO:0001819	synonymous_variant	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79313628G>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.186C>A	2.37:g.79313628G>T						REG1B_uc010ffv.1_Silent_p.L62L|REG1B_uc010ffw.2_3'UTR	p.L62L	NM_006507	NP_006498	P48304	REG1B_HUMAN			4	298	-			62			C-type lectin.			Silent	SNP	ENST00000305089.3	37	c.186C>A	CCDS1963.1																																																																																				PASS	0.498	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		24	106	24	106	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529460	80529460	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:80529460G>A	ENST00000295057.3	-	2	2141	c.1485C>T	c.(1483-1485)aaC>aaT	p.N495N	LRRTM1_ENST00000409148.1_Silent_p.N495N|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	495					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.N495N(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTCAATGTGGTTCGGTTTGT	0.542										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1483-1485)AAC>AAT		leucine rich repeat transmembrane neuronal 1							146.0	119.0	128.0					2																	80529460		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529460G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1485C>T	2.37:g.80529460G>A		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.N495N	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1755	-			495			Cytoplasmic (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1485C>T	CCDS1966.1																																																																																				PASS	0.542	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		12	38	12	38	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529904	80529904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:80529904G>T	ENST00000295057.3	-	2	1697	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*	LRRTM1_ENST00000409148.1_Nonsense_Mutation_p.Y347*|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	347	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.Y347*(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCCCTGTGCGTACTCCGGGC	0.672										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1039-1041)TAC>TAA		leucine rich repeat transmembrane neuronal 1							23.0	21.0	22.0					2																	80529904		2203	4300	6503	SO:0001587	stop_gained	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529904G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1041C>A	2.37:g.80529904G>T	ENSP00000295057:p.Tyr347*	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.Y347*	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1311	-			347			LRRCT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Nonsense_Mutation	SNP	ENST00000295057.3	37	c.1041C>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	37	6.354820	0.97498	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	.	.	.	5.32	2.45	0.29901	.	0.227869	0.37437	U	0.002085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4473	0.11604	0.2922:0.0:0.5575:0.1503	.	.	.	.	X	347	.	.	Y	-	3	2	LRRTM1	80383415	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.352000	0.20113	0.559000	0.29153	0.655000	0.94253	TAC		PASS	0.672	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		8	15	8	15	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530704	80530704	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:80530704G>A	ENST00000295057.3	-	2	897	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	LRRTM1_ENST00000409148.1_Missense_Mutation_p.R81C|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	81					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R81C(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGCCGGCGCGCAGCTCCGAG	0.642										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(241-243)CGC>TGC		leucine rich repeat transmembrane neuronal 1							73.0	76.0	75.0					2																	80530704		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530704G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.241C>T	2.37:g.80530704G>A	ENSP00000295057:p.Arg81Cys	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.R81C	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	511	-			81			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.241C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	9.966	1.224188	0.22457	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.79845	-1.31;-1.31;0.37;0.37;0.37	4.78	3.89	0.44902	.	0.136123	0.52532	U	0.000069	D	0.82825	0.5121	M	0.66297	2.02	0.58432	D	0.999997	D	0.63880	0.993	P	0.49999	0.628	T	0.82744	-0.0306	9	.	.	.	.	14.8288	0.70132	0.0:0.1451:0.8549:0.0	.	81	Q86UE6	LRRT1_HUMAN	C	81	ENSP00000295057:R81C;ENSP00000386646:R81C;ENSP00000415368:R81C;ENSP00000389473:R81C;ENSP00000404557:R81C	.	R	-	1	0	LRRTM1	80384215	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.846000	0.86887	0.970000	0.38263	-0.385000	0.06624	CGC		PASS	0.642	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		17	85	17	85	---	---	---	---
IL1RL1	9173	broad.mit.edu	37	2	102955449	102955449	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:102955449C>G	ENST00000233954.1	+	3	485	c.214C>G	c.(214-216)Ctg>Gtg	p.L72V	IL1RL1_ENST00000393393.3_Missense_Mutation_p.L72V|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.L72V|IL1RL1_ENST00000311734.2_Missense_Mutation_p.L72V	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	72	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.L72V(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGCCAACTTCTGAAGTTTCT	0.433																																						uc002tbu.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(214-216)CTG>GTG		interleukin 1 receptor-like 1 isoform 1							187.0	192.0	190.0					2																	102955449		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102955449C>G	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.214C>G	2.37:g.102955449C>G	ENSP00000233954:p.Leu72Val					IL1RL1_uc010ywa.1_5'UTR|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.L72V	p.L72V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			3	485	+			72			Extracellular (Potential).|Ig-like C2-type 1.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.214C>G	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091402	0.76756	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.95850	0.8649	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95145	0.8267	10	0.48119	T	0.1	.	16.0569	0.80812	0.0:1.0:0.0:0.0	.	72;72	Q01638-2;Q01638	.;ILRL1_HUMAN	V	72	ENSP00000233954:L72V;ENSP00000377052:L72V;ENSP00000310371:L72V;ENSP00000386618:L72V	ENSP00000233954:L72V	L	+	1	2	IL1RL1	102321881	0.862000	0.29867	0.541000	0.28102	0.020000	0.10135	3.754000	0.55189	2.861000	0.98227	0.655000	0.94253	CTG		PASS	0.433	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		204	206	204	206	---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143642976	143642976	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:143642976C>A	ENST00000410015.2	+	2	130	c.40C>A	c.(40-42)Cag>Aag	p.Q14K	KYNU_ENST00000409512.1_Missense_Mutation_p.Q14K|KYNU_ENST00000264170.4_Missense_Mutation_p.Q14K|KYNU_ENST00000375773.2_Missense_Mutation_p.Q14K					kynureninase									p.Q14K(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TGACACAGTGCAGCGCATTGC	0.458																																						uc002tvl.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(40-42)CAG>AAG		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						58.0	59.0	59.0					2																	143642976		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143642976C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.40C>A	2.37:g.143642976C>A	ENSP00000387296:p.Gln14Lys					KYNU_uc002tvk.2_Missense_Mutation_p.Q14K|KYNU_uc010fnm.2_Missense_Mutation_p.Q14K	p.Q14K	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	2	170	+			14						Missense_Mutation	SNP	ENST00000410015.2	37	c.40C>A		.	.	.	.	.	.	.	.	.	.	C	4.826	0.153546	0.09185	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.62232	0.62;0.04;0.62	4.97	3.03	0.35002	.	0.801903	0.11748	N	0.533324	T	0.49201	0.1543	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24476	-1.0159	10	0.07813	T	0.8	.	13.567	0.61824	0.0:0.432:0.568:0.0	.	14;14	Q16719;Q9BVW3	KYNU_HUMAN;.	K	14	ENSP00000264170:Q14K;ENSP00000364928:Q14K;ENSP00000386731:Q14K	ENSP00000264170:Q14K	Q	+	1	0	KYNU	143359446	0.082000	0.21442	0.027000	0.17364	0.027000	0.11550	2.744000	0.47450	1.269000	0.44280	0.557000	0.71058	CAG		PASS	0.458	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		12	55	12	55	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155115534	155115534	+	Splice_Site	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:155115534G>T	ENST00000392825.3	+	8	1425	c.858G>T	c.(856-858)agG>agT	p.R286S	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Splice_Site_p.R286S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	286	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R286S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTTCAACTAGGACCCCTACTA	0.348																																						uc002tyr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(856-858)AGG>AGT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							67.0	72.0	70.0					2																	155115534		2203	4299	6502	SO:0001630	splice_region_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155115534G>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.858-1G>T	2.37:g.155115534G>T						GALNT13_uc002tyt.3_Missense_Mutation_p.R286S|GALNT13_uc010foc.1_Missense_Mutation_p.R105S|GALNT13_uc010fod.2_Missense_Mutation_p.R39S	p.R286S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			8	1425	+			286			Catalytic subdomain B.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.858G>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764772	0.69878	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	0.042624	0.85682	D	0.000000	T	0.74959	0.3785	M	0.87617	2.895	0.80722	D	1	B;P;P;P	0.52316	0.293;0.952;0.494;0.952	B;P;P;P	0.52710	0.237;0.707;0.597;0.707	T	0.77846	-0.2436	9	.	.	.	.	19.1513	0.93491	0.0:0.0:1.0:0.0	.	286;286;286;286	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	S	286	ENSP00000376570:R286S;ENSP00000387239:R286S	.	R	+	3	2	GALNT13	154823780	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.623000	0.74238	2.772000	0.95346	0.650000	0.86243	AGG		PASS	0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	Missense_Mutation	23	39	23	39	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155566273	155566273	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:155566273C>A	ENST00000295101.2	+	2	1338	c.861C>A	c.(859-861)agC>agA	p.S287R	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	287					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.S287R(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCCAGCGAAGCATGCAAACTG	0.428																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(859-861)AGC>AGA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						112.0	102.0	106.0					2																	155566273		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155566273C>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.861C>A	2.37:g.155566273C>A	ENSP00000295101:p.Ser287Arg					KCNJ3_uc010zce.1_Intron	p.S287R	NM_002239	NP_002230	P48549	IRK3_HUMAN			2	1056	+			287			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.861C>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013430	0.54468	.	.	ENSG00000162989	ENST00000295101	D	0.92149	-2.98	5.42	4.54	0.55810	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.094680	0.64402	D	0.000001	D	0.91868	0.7426	M	0.79805	2.47	0.80722	D	1	B	0.20261	0.043	B	0.21708	0.036	D	0.90043	0.4143	10	0.62326	D	0.03	.	13.3718	0.60717	0.0:0.9241:0.0:0.0759	.	287	P48549	IRK3_HUMAN	R	287	ENSP00000295101:S287R	ENSP00000295101:S287R	S	+	3	2	KCNJ3	155274519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.948000	0.56660	1.419000	0.47118	0.650000	0.86243	AGC		PASS	0.428	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		18	112	18	112	---	---	---	---
CYTIP	9595	broad.mit.edu	37	2	158272468	158272468	+	Missense_Mutation	SNP	C	C	A	rs34234589	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:158272468C>A	ENST00000264192.3	-	8	922	c.801G>T	c.(799-801)gaG>gaT	p.E267D	CYTIP_ENST00000540637.1_Missense_Mutation_p.E161D	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	267	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)		p.E267D(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGCTGGAGTCCTCAGACACAC	0.527																																						uc002tzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(799-801)GAG>GAT		cytohesin 1 interacting protein							84.0	78.0	80.0					2																	158272468		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272468C>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.801G>T	2.37:g.158272468C>A	ENSP00000264192:p.Glu267Asp					CYTIP_uc010zcl.1_Missense_Mutation_p.E161D	p.E267D	NM_004288	NP_004279	O60759	CYTIP_HUMAN			8	873	-			267			Ser-rich.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.801G>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059343	0.19987	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.41758	2.28;0.99	5.75	3.9	0.45041	.	0.113216	0.64402	D	0.000011	T	0.23649	0.0572	L	0.29908	0.895	0.29483	N	0.856184	B	0.09022	0.002	B	0.06405	0.002	T	0.16748	-1.0392	10	0.14656	T	0.56	-21.5597	3.0975	0.06314	0.1452:0.5583:0.1405:0.156	.	267	O60759	CYTIP_HUMAN	D	267;161	ENSP00000264192:E267D;ENSP00000440801:E161D	ENSP00000264192:E267D	E	-	3	2	CYTIP	157980714	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	0.315000	0.19451	0.729000	0.32403	0.655000	0.94253	GAG		PASS	0.527	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		25	132	25	132	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163279922	163279922	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:163279922G>C	ENST00000332142.5	-	9	2177	c.2078C>G	c.(2077-2079)cCc>cGc	p.P693R	KCNH7_ENST00000328032.4_Missense_Mutation_p.P686R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	693					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.P693R(1)|p.P686R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CAGAGGGTTGGGGATTTGGTG	0.438																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(2077-2079)CCC>CGC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						255.0	236.0	242.0					2																	163279922		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163279922G>C	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2078C>G	2.37:g.163279922G>C	ENSP00000331727:p.Pro693Arg					KCNH7_uc002uci.2_Missense_Mutation_p.P686R	p.P693R	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			9	2290	-			693			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2078C>G	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917928	0.92249	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.97161	-4.27;-4.27	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.97110	1.0;0.889	D	0.99087	1.0839	10	0.66056	D	0.02	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	686;693	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	R	693;686	ENSP00000331727:P693R;ENSP00000333781:P686R	ENSP00000333781:P686R	P	-	2	0	KCNH7	162988168	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	CCC		PASS	0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		37	258	37	258	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105946	168105946	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:168105946T>G	ENST00000409195.1	+	9	8133	c.8044T>G	c.(8044-8046)Tgt>Ggt	p.C2682G	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.C2682G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.C2460G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2507					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.C2682G(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						TCACCAAGAATGTAGTACCCA	0.363																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8044-8046)TGT>GGT		xin actin-binding repeat containing 2 isoform 1							69.0	67.0	68.0					2																	168105946		1863	4097	5960	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105946T>G	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.8044T>G	2.37:g.168105946T>G	ENSP00000386840:p.Cys2682Gly					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.C2507G|XIRP2_uc010fpq.2_Missense_Mutation_p.C2460G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.C28G	p.C2682G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8062	+			2507					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8044T>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	4.500	0.092711	0.08632	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02421	4.3;4.3;4.3	6.07	-2.04	0.07343	.	1.070100	0.07017	N	0.826131	T	0.03434	0.0099	L	0.51422	1.61	0.09310	N	1	B;B;B	0.19817	0.023;0.039;0.039	B;B;B	0.23018	0.019;0.043;0.043	T	0.48536	-0.9027	10	0.20046	T	0.44	8.2897	7.8619	0.29514	0.1332:0.5093:0.0:0.3575	.	2507;2507;2460	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	2682;2682;2460;96	ENSP00000386840:C2682G;ENSP00000295237:C2682G;ENSP00000387255:C2460G	ENSP00000295237:C2682G	C	+	1	0	XIRP2	167814192	0.001000	0.12720	0.012000	0.15200	0.260000	0.26232	-0.034000	0.12225	-0.246000	0.09611	-0.250000	0.11733	TGT		PASS	0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	162	24	162	---	---	---	---
B3GALT1	8708	broad.mit.edu	37	2	168726198	168726198	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:168726198C>T	ENST00000392690.3	+	1	741	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.R217C|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	217					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R217C(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCGGGATGTCCGCAGTAAGTG	0.453																																						uc002udz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(649-651)CGC>TGC		UDP-Gal:betaGlcNAc beta							105.0	103.0	103.0					2																	168726198		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726198C>T	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.649C>T	2.37:g.168726198C>T	ENSP00000376456:p.Arg217Cys						p.R217C	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	1000	+			217			Lumenal (Potential).		D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.649C>T	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387645	0.61956	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	D;D	0.85258	-1.96;-1.96	6.02	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.89276	0.6669	L	0.49640	1.575	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	D	0.89203	0.3559	10	0.56958	D	0.05	-16.8954	16.7521	0.85488	0.1295:0.8704:0.0:0.0	.	217	Q9Y5Z6	B3GT1_HUMAN	C	217	ENSP00000303740:R217C;ENSP00000376456:R217C	ENSP00000303740:R217C	R	+	1	0	B3GALT1	168434444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.934000	0.70138	2.865000	0.98341	0.655000	0.94253	CGC		PASS	0.453	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		43	74	43	74	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170019060	170019060	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:170019060T>C	ENST00000263816.3	-	63	12094	c.11809A>G	c.(11809-11811)Aat>Gat	p.N3937D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3937	LDL-receptor class A 36. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.N3937D(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAATGCCCATTGCCACACTTA	0.378																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11809-11811)AAT>GAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						148.0	139.0	142.0					2																	170019060		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170019060T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11809A>G	2.37:g.170019060T>C	ENSP00000263816:p.Asn3937Asp						p.N3937D	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	63	12022	-			3937			LDL-receptor class A 36.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11809A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141689	0.57044	.	.	ENSG00000081479	ENST00000263816	T	0.76968	-1.06	5.99	2.39	0.29439	Growth factor, receptor (1);	0.188840	0.53938	N	0.000041	T	0.78444	0.4284	L	0.59912	1.85	0.80722	D	1	D	0.53151	0.958	P	0.51657	0.676	T	0.76605	-0.2898	10	0.72032	D	0.01	.	9.4154	0.38519	0.0:0.1986:0.0:0.8014	.	3937	P98164	LRP2_HUMAN	D	3937	ENSP00000263816:N3937D	ENSP00000263816:N3937D	N	-	1	0	LRP2	169727306	1.000000	0.71417	0.001000	0.08648	0.032000	0.12392	4.271000	0.58902	0.182000	0.20032	0.533000	0.62120	AAT		PASS	0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		89	87	89	87	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170063381	170063381	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:170063381G>A	ENST00000263816.3	-	39	7134	c.6849C>T	c.(6847-6849)atC>atT	p.I2283I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2283					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.I2283I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAAAAACAGTGATGCCATAAG	0.398																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6847-6849)ATC>ATT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						126.0	129.0	128.0					2																	170063381		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063381G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6849C>T	2.37:g.170063381G>A							p.I2283I	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7062	-			2283			LDL-receptor class B 23.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.6849C>T	CCDS2232.1																																																																																				PASS	0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		100	93	100	93	---	---	---	---
KIAA1715	80856	broad.mit.edu	37	2	176794922	176794922	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:176794922A>C	ENST00000272748.4	-	13	1307	c.1060T>G	c.(1060-1062)Tta>Gta	p.L354V	KIAA1715_ENST00000544803.1_Missense_Mutation_p.L385V|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	354					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.L354V(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCGTGTTCTAAAGATTCTGAA	0.348																																						uc002ukc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1060-1062)TTA>GTA		Lunapark							126.0	116.0	119.0					2																	176794922		2203	4299	6502	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176794922A>C	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1060T>G	2.37:g.176794922A>C	ENSP00000272748:p.Leu354Val					KIAA1715_uc010zer.1_Missense_Mutation_p.L385V|KIAA1715_uc010fqw.1_Missense_Mutation_p.L420V|KIAA1715_uc010zes.1_Missense_Mutation_p.L356V|KIAA1715_uc002ukd.1_Missense_Mutation_p.L231V|KIAA1715_uc010zet.1_RNA	p.L354V	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		13	1253	-			354			Cytoplasmic (Potential).		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.1060T>G	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057415	0.07317	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	5.58	1.68	0.24146	.	0.743599	0.13027	N	0.419656	T	0.37812	0.1017	N	0.05199	-0.095	0.80722	D	1	B;B;B;B	0.11235	0.004;0.001;0.002;0.001	B;B;B;B	0.11329	0.006;0.001;0.003;0.001	T	0.14420	-1.0473	9	0.87932	D	0	-2.0E-4	13.5719	0.61851	0.4255:0.5745:0.0:0.0	.	356;385;351;354	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	354;356;231;385	.	ENSP00000272748:L354V	L	-	1	2	KIAA1715	176503168	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.346000	0.33964	0.104000	0.17725	-0.405000	0.06341	TTA		PASS	0.348	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		30	136	30	136	---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176996059	176996059	+	Nonsense_Mutation	SNP	C	C	T	rs199871239		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:176996059C>T	ENST00000313173.4	+	2	1219	c.592C>T	c.(592-594)Cga>Tga	p.R198*	HOXD8_ENST00000450510.2_Nonsense_Mutation_p.R197*|HOXD8_ENST00000544999.1_Nonsense_Mutation_p.R197*|HOXD8_ENST00000429017.1_Nonsense_Mutation_p.R14*|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Nonsense_Mutation_p.R94*	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	198					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R198*(1)		central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TCCTGGTAGACGAAGAGGAAG	0.408																																						uc002uko.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(592-594)CGA>TGA		homeobox D8							70.0	84.0	79.0					2																	176996059		2203	4300	6503	SO:0001587	stop_gained	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996059C>T		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.592C>T	2.37:g.176996059C>T	ENSP00000315949:p.Arg198*					uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Nonsense_Mutation_p.R14*|HOXD8_uc002ukp.2_Nonsense_Mutation_p.R197*	p.R198*	NM_019558	NP_062458	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1210	+			198			Homeobox.		F8WBG7|Q5BL00|Q8IXZ1	Nonsense_Mutation	SNP	ENST00000313173.4	37	c.592C>T	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924251	0.52653	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	.	.	.	5.65	-0.385	0.12470	.	0.000000	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	17.1628	0.86808	0.7031:0.2969:0.0:0.0	.	.	.	.	X	14;198;197;94;197	.	ENSP00000315949:R198X	R	+	1	2	HOXD8	176704305	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.633000	0.37113	-0.001000	0.14495	-1.014000	0.02459	CGA		PASS	0.408	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			36	161	36	161	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179599491	179599491	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:179599491A>G	ENST00000591111.1	-	49	14433	c.14209T>C	c.(14209-14211)Tgt>Cgt	p.C4737R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C3810R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.C5054R			Q8WZ42	TITIN_HUMAN	titin	12117	Ig-like 27.				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.C3810R(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)			ACTGCTTCACATGAGTAACTC	0.378																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11428-11430)TGT>CGT		titin isoform N2-A							153.0	147.0	149.0					2																	179599491		1880	4119	5999	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599491A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14209T>C	2.37:g.179599491A>G	ENSP00000465570:p.Cys4737Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C471R	p.C3810R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	11652	-			4737					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.11428T>C		.	.	.	.	.	.	.	.	.	.	A	9.149	1.015825	0.19355	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88220	0.6378	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93175	0.6569	9	0.87932	D	0	.	15.9005	0.79373	1.0:0.0:0.0:0.0	.	4737	Q8WZ42	TITIN_HUMAN	R	3810	ENSP00000343764:C3810R	ENSP00000343764:C3810R	C	-	1	0	TTN	179307736	1.000000	0.71417	0.913000	0.36048	0.372000	0.29890	9.331000	0.96430	2.155000	0.67459	0.460000	0.39030	TGT		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		100	132	100	132	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179634798	179634798	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:179634798A>C	ENST00000591111.1	-	36	8854	c.8630T>G	c.(8629-8631)cTg>cGg	p.L2877R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L2877R|TTN_ENST00000360870.5_Missense_Mutation_p.L2877R|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L2831R|TTN_ENST00000342175.6_Missense_Mutation_p.L2831R|TTN_ENST00000460472.2_Missense_Mutation_p.L2831R|TTN_ENST00000589042.1_Missense_Mutation_p.L2877R			Q8WZ42	TITIN_HUMAN	titin	13205					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.L2831R(3)|p.L2877R(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCACAAACAGTTTTGCTTT	0.443																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8629-8631)CTG>CGG		titin isoform N2-A							148.0	139.0	142.0					2																	179634798		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634798A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8630T>G	2.37:g.179634798A>C	ENSP00000465570:p.Leu2877Arg					TTN_uc010zfh.1_Missense_Mutation_p.L2831R|TTN_uc010zfi.1_Missense_Mutation_p.L2831R|TTN_uc010zfj.1_Missense_Mutation_p.L2831R|TTN_uc002unb.2_Missense_Mutation_p.L2877R	p.L2877R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8854	-			2877					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.8630T>G		.	.	.	.	.	.	.	.	.	.	A	12.25	1.882389	0.33255	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85483	0.5707	H	0.95611	3.695	0.33078	D	0.536312	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.982;0.982;0.982;0.982;0.995	D	0.92302	0.5850	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	2831;2831;2831;2877;2877	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	2877;2831;2831;2831;2831;2877	ENSP00000343764:L2877R;ENSP00000434586:L2831R;ENSP00000340554:L2831R;ENSP00000352154:L2831R;ENSP00000354117:L2877R	ENSP00000340554:L2831R	L	-	2	0	TTN	179343043	0.989000	0.36119	0.110000	0.21437	0.756000	0.42949	8.962000	0.93254	2.324000	0.78689	0.533000	0.62120	CTG		PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		111	150	111	150	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179659273	179659273	+	Silent	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:179659273T>C	ENST00000591111.1	-	8	1475	c.1251A>G	c.(1249-1251)aaA>aaG	p.K417K	TTN_ENST00000342992.6_Silent_p.K417K|TTN_ENST00000360870.5_Silent_p.K417K|TTN_ENST00000359218.5_Silent_p.K417K|TTN_ENST00000342175.6_Silent_p.K417K|TTN_ENST00000460472.2_Silent_p.K417K|TTN_ENST00000589042.1_Silent_p.K417K			Q8WZ42	TITIN_HUMAN	titin	0	Ala-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K417K(6)		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)			CAGCATCTTGTTTCACCTAGA	0.428																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1249-1251)AAA>AAG		titin isoform N2-A							106.0	101.0	102.0					2																	179659273		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659273T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1251A>G	2.37:g.179659273T>C						TTN_uc010zfh.1_Silent_p.K417K|TTN_uc010zfi.1_Silent_p.K417K|TTN_uc010zfj.1_Silent_p.K417K|TTN_uc002unb.2_Silent_p.K417K|TTN_uc010frg.1_Silent_p.K91K	p.K417K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		8	1475	-			417					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.1251A>G																																																																																					PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	157	30	157	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801309	185801309	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:185801309C>A	ENST00000302277.6	+	4	1780	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	396							metal ion binding (GO:0046872)	p.P396T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAATGGTCCCGAGACATT	0.383																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1186-1188)CCC>ACC		zinc finger protein 804A							67.0	70.0	69.0					2																	185801309		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801309C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1186C>A	2.37:g.185801309C>A	ENSP00000303252:p.Pro396Thr						p.P396T	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1780	+			396					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1186C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	0.330	-0.956909	0.02267	.	.	ENSG00000170396	ENST00000302277	T	0.05258	3.47	5.48	3.67	0.42095	.	1.398140	0.04293	N	0.345982	T	0.05318	0.0141	L	0.41236	1.265	0.09310	N	1	B	0.18863	0.031	B	0.09377	0.004	T	0.48317	-0.9046	10	0.07325	T	0.83	-0.0893	1.3033	0.02083	0.1581:0.4513:0.1529:0.2376	.	396	Q7Z570	Z804A_HUMAN	T	396	ENSP00000303252:P396T	ENSP00000303252:P396T	P	+	1	0	ZNF804A	185509554	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.465000	0.06680	1.305000	0.44909	0.591000	0.81541	CCC		PASS	0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		65	74	65	74	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187693061	187693061	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:187693061C>T	ENST00000295131.2	-	9	1591	c.1552G>A	c.(1552-1554)Gtt>Att	p.V518I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	518					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V518I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTCTTATGAACAATAGGAGGA	0.383																																						uc002upu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1552-1554)GTT>ATT		zinc finger, SWIM domain containing 2							68.0	66.0	66.0					2																	187693061		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187693061C>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1552G>A	2.37:g.187693061C>T	ENSP00000295131:p.Val518Ile						p.V518I	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1592	-			518					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.1552G>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	3.971	-0.008366	0.07727	.	.	ENSG00000163012	ENST00000295131	T	0.22336	1.96	5.46	-0.47	0.12131	.	1.289750	0.05161	N	0.497823	T	0.14056	0.0340	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.16722	0.016	T	0.33420	-0.9869	10	0.45353	T	0.12	3.3504	5.5026	0.16836	0.0:0.4577:0.1497:0.3926	.	518	Q8NEG5	ZSWM2_HUMAN	I	518	ENSP00000295131:V518I	ENSP00000295131:V518I	V	-	1	0	ZSWIM2	187401306	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.620000	0.05565	-0.008000	0.14320	0.491000	0.48974	GTT		PASS	0.383	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		16	59	16	59	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197183429	197183429	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:197183429C>A	ENST00000260983.3	-	9	2367	c.2185G>T	c.(2185-2187)Gac>Tac	p.D729Y	HECW2_ENST00000409111.1_Missense_Mutation_p.D373Y	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	729					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.D729Y(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						TCCTCCTGGTCAGGTACAGTG	0.647																																						uc002utm.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(2185-2187)GAC>TAC		HECT, C2 and WW domain containing E3 ubiquitin							30.0	32.0	32.0					2																	197183429		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183429C>A	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.2185G>T	2.37:g.197183429C>A	ENSP00000260983:p.Asp729Tyr					HECW2_uc002utl.1_Missense_Mutation_p.D373Y	p.D729Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	2368	-			729					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2185G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	2.541	-0.306234	0.05458	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.33654	1.4;1.41	4.91	4.04	0.47022	.	3.454410	0.00610	N	0.000408	T	0.24236	0.0587	N	0.08118	0	0.32143	N	0.585304	P	0.34462	0.454	B	0.37833	0.259	T	0.33803	-0.9854	10	0.02654	T	1	.	11.8001	0.52122	0.0:0.9185:0.0:0.0815	.	729	Q9P2P5	HECW2_HUMAN	Y	373;729	ENSP00000386775:D373Y;ENSP00000260983:D729Y	ENSP00000260983:D729Y	D	-	1	0	HECW2	196891674	0.606000	0.26949	0.248000	0.24265	0.957000	0.61999	1.743000	0.38258	1.299000	0.44798	0.462000	0.41574	GAC		PASS	0.647	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		39	39	39	39	---	---	---	---
FZD7	8324	broad.mit.edu	37	2	202900096	202900096	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:202900096G>T	ENST00000286201.1	+	1	787	c.726G>T	c.(724-726)ctG>ctT	p.L242L	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	242					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L242L(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCAACGGCCTGATGTACTTTA	0.667											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyw.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(724-726)CTG>CTT		frizzled 7 precursor							35.0	37.0	36.0					2																	202900096		2201	4295	6496	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900096G>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.726G>T	2.37:g.202900096G>T			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.L242L	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	787	+			242			Extracellular (Potential).		O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.726G>T	CCDS2351.1																																																																																				PASS	0.667	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		22	92	22	92	---	---	---	---
EEF1B2	1933	broad.mit.edu	37	2	207027298	207027298	+	Silent	SNP	C	C	T	rs2359156		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:207027298C>T	ENST00000392222.2	+	5	858	c.483C>T	c.(481-483)tgC>tgT	p.C161C	NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.C161C|SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Silent_p.C161C	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	161					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.C161C(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TAGAGGAGTGCGTCAGAAGCA	0.408																																						uc002vbf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(481-483)TGC>TGT		eukaryotic translation elongation factor 1 beta							120.0	125.0	123.0					2																	207027298		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207027298C>T	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.483C>T	2.37:g.207027298C>T						EEF1B2_uc002vbg.1_Silent_p.C161C|EEF1B2_uc002vbh.1_Silent_p.C161C	p.C161C	NM_001037663	NP_001032752	P24534	EF1B_HUMAN			6	641	+			161					A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.483C>T	CCDS2367.1																																																																																				PASS	0.408	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		18	272	18	272	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207169471	207169471	+	Silent	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:207169471T>A	ENST00000374423.3	+	5	605	c.219T>A	c.(217-219)acT>acA	p.T73T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	73							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T73T(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGTGAATACTGGGTCATCGT	0.388																																						uc002vbp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(217-219)ACT>ACA		zinc finger, DBF-type containing 2							77.0	75.0	75.0					2																	207169471		1946	4139	6085	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207169471T>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.219T>A	2.37:g.207169471T>A							p.T73T	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	469	+			73					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.219T>A	CCDS46501.1																																																																																				PASS	0.388	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		70	53	70	53	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209191056	209191056	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:209191056A>G	ENST00000264380.4	+	20	3679	c.3521A>G	c.(3520-3522)aAg>aGg	p.K1174R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1174					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.K1174R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCTCATTCAAAGGATGCATCA	0.473																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(3520-3522)AAG>AGG		phosphatidylinositol-3-phosphate 5-kinase type							89.0	86.0	87.0					2																	209191056		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209191056A>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3521A>G	2.37:g.209191056A>G	ENSP00000264380:p.Lys1174Arg					PIKFYVE_uc010fun.1_Missense_Mutation_p.K855R|PIKFYVE_uc002vcy.1_Missense_Mutation_p.K1118R	p.K1174R	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	3679	+			1174					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3521A>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757286	0.31137	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31510	1.49;1.65	5.58	4.43	0.53597	.	0.063882	0.64402	D	0.000005	T	0.40272	0.1110	L	0.33137	0.985	0.80722	D	1	P;D	0.58268	0.651;0.982	B;D	0.67548	0.15;0.952	T	0.08432	-1.0722	9	.	.	.	-15.4798	11.376	0.49728	0.9294:0.0:0.0706:0.0	.	1174;1118	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	R	1174;750;1118	ENSP00000264380:K1174R;ENSP00000405736:K1118R	.	K	+	2	0	PIKFYVE	208899301	1.000000	0.71417	0.993000	0.49108	0.608000	0.37181	3.157000	0.50716	0.949000	0.37715	-0.250000	0.11733	AAG		PASS	0.473	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		32	41	32	41	---	---	---	---
LANCL1	10314	broad.mit.edu	37	2	211342491	211342491	+	5'Flank	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:211342491G>A	ENST00000443314.1	-	0	0				LANCL1_ENST00000233714.4_5'Flank|LANCL1_ENST00000450366.2_5'Flank|LANCL1_ENST00000441020.3_5'Flank|LANCL1_ENST00000431941.2_5'Flank|CPS1_ENST00000430249.2_Splice_Site			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)						G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GAGGCCCATGGTGAGTCTTAA	0.378																																						uc010fur.2																			1	Unknown(1)		lung(1)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.e1+1		carbamoyl-phosphate synthetase 1 isoform a							79.0	68.0	71.0					2																	211342491		1568	3582	5150	SO:0001631	upstream_gene_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211342491G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991		2.37:g.211342491G>A	Exception_encountered					LANCL1_uc010zjh.1_5'Flank|LANCL1_uc002ved.2_5'Flank|LANCL1_uc010fuq.2_5'Flank	p.M1_splice	NM_001122633	NP_001116105	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	1	82	+									Splice_Site	SNP	ENST00000443314.1	37	c.3_splice	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	3.830	-0.036069	0.07497	.	.	ENSG00000021826	ENST00000523702;ENST00000430249	.	.	.	2.86	1.03	0.20045	.	.	.	.	.	.	.	.	.	.	.	0.22511	N	0.999031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5299	0.16978	0.2419:0.0:0.7581:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211050736	0.008000	0.16893	0.004000	0.12327	0.013000	0.08279	0.180000	0.16860	0.272000	0.22027	0.561000	0.74099	.		PASS	0.378	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		12	44	12	44	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214878777	214878777	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:214878777C>A	ENST00000331683.5	+	13	1598	c.1503C>A	c.(1501-1503)acC>acA	p.T501T	SPAG16_ENST00000374309.3_Silent_p.T407T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	501					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.T501T(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAGACAAGACCCTGTCTATAT	0.383																																						uc002veq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1501-1503)ACC>ACA		sperm associated antigen 16 isoform 1							159.0	155.0	156.0					2																	214878777		2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214878777C>A	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1503C>A	2.37:g.214878777C>A						SPAG16_uc010fuz.1_Silent_p.T352T|SPAG16_uc002ver.2_Silent_p.T447T|SPAG16_uc010zjk.1_Silent_p.T407T	p.T501T	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	13	1595	+		Renal(323;0.00461)	501			WD 4.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.1503C>A	CCDS2396.1																																																																																				PASS	0.383	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		35	160	35	160	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215813366	215813366	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:215813366T>C	ENST00000272895.7	-	47	7277	c.7058A>G	c.(7057-7059)tAt>tGt	p.Y2353C	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Y2035C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2353	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.Y2353C(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCATAGAAATACAAATGTTC	0.378																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(7057-7059)TAT>TGT		ATP-binding cassette, sub-family A, member 12							99.0	94.0	96.0					2																	215813366		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215813366T>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7058A>G	2.37:g.215813366T>C	ENSP00000272895:p.Tyr2353Cys					ABCA12_uc002vev.2_Missense_Mutation_p.Y2035C|ABCA12_uc010zjn.1_Missense_Mutation_p.Y1280C	p.Y2353C	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	47	7278	-		Renal(323;0.127)	2353			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.7058A>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992556	0.74703	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.80123	-1.34;-1.34	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.56097	D	0.000033	D	0.86594	0.5970	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.992	D	0.87738	0.2583	10	0.66056	D	0.02	.	15.6059	0.76672	0.0:0.0:0.0:1.0	.	2353;2035	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	C	2353;2035	ENSP00000272895:Y2353C;ENSP00000374312:Y2035C	ENSP00000272895:Y2353C	Y	-	2	0	ABCA12	215521611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.015000	0.88690	2.081000	0.62600	0.533000	0.62120	TAT		PASS	0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		3	85	3	85	---	---	---	---
CHRND	1144	broad.mit.edu	37	2	233390967	233390967	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:233390967G>A	ENST00000258385.3	+	1	74	c.42G>A	c.(40-42)ctG>ctA	p.L14L	CHRND_ENST00000543200.1_Silent_p.L14L|CHRND_ENST00000536614.1_Silent_p.L14L|CHRND_ENST00000457943.2_5'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	14					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.L14L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TGGCTGCCCTGGCGGTGTGTG	0.652																																						uc002vsw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(40-42)CTG>CTA		nicotinic acetylcholine receptor delta							56.0	55.0	55.0					2																	233390967		2203	4300	6503	SO:0001819	synonymous_variant	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233390967G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.42G>A	2.37:g.233390967G>A						CHRND_uc010zmg.1_Silent_p.L14L|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	p.L14L	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	1	46	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	14					A8K661|B4DT92|Q52LH4	Silent	SNP	ENST00000258385.3	37	c.42G>A	CCDS2494.1																																																																																				PASS	0.652	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			17	31	17	31	---	---	---	---
LRRFIP1	9208	broad.mit.edu	37	2	238661985	238661985	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:238661985A>T	ENST00000392000.4	+	8	634	c.517A>T	c.(517-519)Aag>Tag	p.K173*	LRRFIP1_ENST00000308482.9_Nonsense_Mutation_p.K301*|LRRFIP1_ENST00000289175.6_Nonsense_Mutation_p.K117*|LRRFIP1_ENST00000244815.5_Nonsense_Mutation_p.K149*	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	173					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.K149*(1)|p.K173*(1)|p.K301*(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAAATATAAGAAGGCTATGGT	0.353																																						uc002vxe.2																			3	Substitution - Nonsense(3)		lung(3)	breast(3)	3						c.(517-519)AAG>TAG		leucine rich repeat (in FLII) interacting							73.0	74.0	74.0					2																	238661985		2203	4300	6503	SO:0001587	stop_gained	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238661985A>T	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.517A>T	2.37:g.238661985A>T	ENSP00000375857:p.Lys173*					LRRFIP1_uc002vxc.2_Nonsense_Mutation_p.K301*|LRRFIP1_uc010znm.1_Nonsense_Mutation_p.K117*|LRRFIP1_uc002vxd.2_Nonsense_Mutation_p.K149*|LRRFIP1_uc002vxf.2_Nonsense_Mutation_p.K117*	p.K173*	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	8	809	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	173			Potential.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Nonsense_Mutation	SNP	ENST00000392000.4	37	c.517A>T	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	A	39	7.359953	0.98235	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	.	.	.	5.64	5.64	0.86602	.	0.096640	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-50.9366	11.3586	0.49630	0.8485:0.1515:0.0:0.0	.	.	.	.	X	301;117;291;149;173	.	ENSP00000244815:K149X	K	+	1	0	LRRFIP1	238326724	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.466000	0.66731	2.275000	0.75901	0.528000	0.53228	AAG		PASS	0.353	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		24	134	24	134	---	---	---	---
MTERF4	130916	broad.mit.edu	37	2	242035676	242035676	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:242035676T>A	ENST00000391980.2	-	4	941	c.883A>T	c.(883-885)Aga>Tga	p.R295*	MTERFD2_ENST00000406593.1_Nonsense_Mutation_p.R107*|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		295					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.R295*(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TCTGAAACTCTGAGAATGTCC	0.502																																						uc002wan.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(970-972)AGA>TGA		MTERF domain containing 2							122.0	117.0	119.0					2																	242035676		2203	4300	6503	SO:0001587	stop_gained	130916							g.chr2:242035676T>A																												ENST00000391980.2:c.883A>T	2.37:g.242035676T>A	ENSP00000375840:p.Arg295*					MTERFD2_uc010zoj.1_Nonsense_Mutation_p.R107*	p.R324*	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	3	1463	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	295					A8K6K0|Q9P0E0	Nonsense_Mutation	SNP	ENST00000391980.2	37	c.970A>T	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047056	0.36085	.	.	ENSG00000122085	ENST00000391980;ENST00000406593;ENST00000439144	.	.	.	5.7	-1.41	0.08941	.	0.289804	0.32802	N	0.005624	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-10.7854	9.714	0.40263	0.0:0.1264:0.5619:0.3116	.	.	.	.	X	295;107;148	.	ENSP00000241527:R295X	R	-	1	2	MTERFD2	241684349	0.000000	0.05858	0.003000	0.11579	0.228000	0.25075	-0.600000	0.05693	-0.461000	0.06993	-0.399000	0.06403	AGA		PASS	0.502	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			63	151	63	151	---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242128059	242128059	+	Silent	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:242128059C>G	ENST00000274979.8	+	1	136	c.33C>G	c.(31-33)ctC>ctG	p.L11L	ANO7_ENST00000402430.3_Silent_p.L11L|ANO7_ENST00000402530.3_Silent_p.L11L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	11					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.L11L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGGCGGGGCTCCAAGGGCCAC	0.687																																						uc002wax.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(31-33)CTC>CTG		transmembrane protein 16G isoform NGEP long							30.0	31.0	31.0					2																	242128059		2201	4300	6501	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242128059C>G	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.33C>G	2.37:g.242128059C>G						ANO7_uc002waw.2_Silent_p.L11L	p.L11L	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			1	136	+			11			Cytoplasmic (Potential).		Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.33C>G	CCDS33423.1																																																																																				PASS	0.687	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		15	25	15	25	---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242192406	242192406	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:242192406G>A	ENST00000391975.1	-	11	1565	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000391976.2_Silent_p.F446F|HDLBP_ENST00000427183.2_Silent_p.F413F|HDLBP_ENST00000310931.4_Silent_p.F446F	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	446	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.F446F(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGTGCCTGTGGAACTTGTGGT	0.577																																						uc002waz.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(1336-1338)TTC>TTT		high density lipoprotein binding protein							197.0	156.0	170.0					2																	242192406		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242192406G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1338C>T	2.37:g.242192406G>A						HDLBP_uc002wba.2_Silent_p.F446F|HDLBP_uc002wbb.2_Silent_p.F398F	p.F446F	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	11	1566	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	446			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.1338C>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.12|11.12	1.543822|1.543822	0.27563|0.27563	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000453141	.|.	.|.	.|.	5.49|5.49	1.67|1.67	0.24075|0.24075	.|.	.|.	.|.	.|.	.|.	T|T	0.57917|0.57917	0.2086|0.2086	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51663|0.51663	-0.8677|-0.8677	4|4	.|.	.|.	.|.	-31.3889|-31.3889	9.5731|9.5731	0.39440|0.39440	0.2897:0.0:0.7103:0.0|0.2897:0.0:0.7103:0.0	.|.	.|.	.|.	.|.	S|F	255|324	.|.	.|.	P|S	-|-	1|2	0|0	HDLBP|HDLBP	241841079|241841079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.462000|1.462000	0.35266|0.35266	0.385000|0.385000	0.24970|0.24970	0.655000|0.655000	0.94253|0.94253	CCA|TCC		PASS	0.577	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		24	141	24	141	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3095514	3095514	+	Silent	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:3095514A>G	ENST00000397461.1	+	23	3219	c.2835A>G	c.(2833-2835)caA>caG	p.Q945Q	CNTN4_ENST00000418658.1_Silent_p.Q945Q|CNTN4_ENST00000448906.2_Silent_p.Q617Q|CNTN4_ENST00000358480.3_Silent_p.Q726Q|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.Q617Q|CNTN4_ENST00000427331.1_Silent_p.Q945Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	945	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.Q945Q(1)|p.Q617Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAACAGACAAAGCAGCACAT	0.408																																						uc003bpc.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2833-2835)CAA>CAG		contactin 4 isoform a precursor							83.0	89.0	87.0					3																	3095514		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3095514A>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2835A>G	3.37:g.3095514A>G						CNTN4_uc003bpe.2_Silent_p.Q617Q|CNTN4_uc003bpf.2_Silent_p.Q616Q|CNTN4_uc003bpg.2_Silent_p.Q201Q	p.Q945Q	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	23	3056	+		Ovarian(110;0.156)	945			Fibronectin type-III 4.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.2835A>G	CCDS43041.1																																																																																				PASS	0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			25	44	25	44	---	---	---	---
JAGN1	84522	broad.mit.edu	37	3	9934715	9934715	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:9934715C>A	ENST00000307768.4	+	2	375	c.206C>A	c.(205-207)gCc>gAc	p.A69D		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)									p.A69D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GATCAGGTGGCCATGCCCTAT	0.512																																						uc003btt.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)GCC>GAC		jagunal homolog 1							206.0	161.0	176.0					3																	9934715		2203	4300	6503	SO:0001583	missense	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934715C>A	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.206C>A	3.37:g.9934715C>A	ENSP00000306106:p.Ala69Asp					CIDEC_uc003bto.2_Intron	p.A69D	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN			2	342	+	Medulloblastoma(99;0.227)		69			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000307768.4	37	c.206C>A	CCDS2588.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657080	0.67586	.	.	ENSG00000171135	ENST00000307768;ENST00000543379	.	.	.	5.24	5.24	0.73138	.	0.051717	0.85682	D	0.000000	T	0.64843	0.2635	M	0.62723	1.935	0.80722	D	1	P	0.35226	0.491	B	0.37650	0.255	T	0.67741	-0.5592	9	0.54805	T	0.06	-18.1932	18.422	0.90594	0.0:1.0:0.0:0.0	.	69	Q8N5M9	JAGN1_HUMAN	D	69	.	ENSP00000306106:A69D	A	+	2	0	JAGN1	9909715	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.773000	0.85462	2.442000	0.82660	0.313000	0.20887	GCC		PASS	0.512	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		16	69	16	69	---	---	---	---
WNT7A	7476	broad.mit.edu	37	3	13916528	13916528	+	Missense_Mutation	SNP	C	C	T	rs397514666		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:13916528C>T	ENST00000285018.4	-	2	518	c.214G>A	c.(214-216)Gag>Aag	p.E72K	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	72			E -> K (in LPHAS). {ECO:0000269|PubMed:21271649}.		asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.E72K(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AACTGACACTCGTCCAGGCCC	0.597																																						uc003bye.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(214-216)GAG>AAG		wingless-type MMTV integration site family,							63.0	56.0	58.0					3																	13916528		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916528C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.214G>A	3.37:g.13916528C>T	ENSP00000285018:p.Glu72Lys						p.E72K	NM_004625	NP_004616	O00755	WNT7A_HUMAN			2	519	-			72		E -> K (in LPHAS).			Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.214G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	36	5.962140	0.97151	.	.	ENSG00000154764	ENST00000285018	T	0.80214	-1.35	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96187	0.9135	10	0.87932	D	0	.	18.9939	0.92804	0.0:1.0:0.0:0.0	.	72	O00755	WNT7A_HUMAN	K	72	ENSP00000285018:E72K	ENSP00000285018:E72K	E	-	1	0	WNT7A	13891529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.739000	0.84976	2.481000	0.83766	0.651000	0.88453	GAG		PASS	0.597	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		30	55	30	55	---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44839159	44839159	+	Silent	SNP	C	C	T	rs539059165		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:44839159C>T	ENST00000326047.4	+	9	1115	c.966C>T	c.(964-966)ttC>ttT	p.F322F	KIF15_ENST00000425755.1_5'Flank	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	322	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F322F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AACTTACCTTCTTACTACGGG	0.463																																						uc003cnx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(964-966)TTC>TTT		kinesin family member 15							184.0	176.0	179.0					3																	44839159		2203	4300	6503	SO:0001819	synonymous_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44839159C>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.966C>T	3.37:g.44839159C>T						KIF15_uc010hiq.2_Silent_p.F225F|KIF15_uc003cny.1_5'Flank	p.F322F	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	9	1115	+			322					Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	c.966C>T	CCDS33744.1																																																																																				PASS	0.463	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			107	111	107	111	---	---	---	---
LTF	4057	broad.mit.edu	37	3	46491504	46491504	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:46491504C>T	ENST00000231751.4	-	8	1192	c.897G>A	c.(895-897)aaG>aaA	p.K299K	LTF_ENST00000417439.1_Silent_p.K299K|LTF_ENST00000426532.2_Silent_p.K255K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	299	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.K299K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GTGACTTGTCCTTTCCAAACT	0.418																																						uc003cpq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(895-897)AAG>AAA		lactotransferrin precursor	Pefloxacin(DB00487)						65.0	65.0	65.0					3																	46491504		2203	4296	6499	SO:0001819	synonymous_variant	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46491504C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.897G>A	3.37:g.46491504C>T						LTF_uc003fzr.2_Silent_p.K255K|LTF_uc010hjh.2_Silent_p.K299K|LTF_uc003cpr.2_Silent_p.K286K	p.K299K	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	8	935	-			299			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	ENST00000231751.4	37	c.897G>A	CCDS33747.1																																																																																				PASS	0.418	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		20	72	20	72	---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47289509	47289509	+	Splice_Site	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:47289509A>T	ENST00000265529.3	-	12	1807	c.1127T>A	c.(1126-1128)cTg>cAg	p.L376Q	KIF9_ENST00000452770.2_Splice_Site_p.L376Q|KIF9-AS1_ENST00000429315.3_RNA|snoU13_ENST00000459492.1_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Splice_Site_p.L376Q|KIF9_ENST00000352910.4_Splice_Site_p.L283Q|KIF9_ENST00000444589.2_Splice_Site_p.L376Q			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	376					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.L376Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCCTCTTACCAGGCTGTCATG	0.582																																					Colon(44;962 1147 15977 24541)	uc010hjp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1126-1128)CTG>CAG		kinesin family member 9 isoform 2							180.0	168.0	172.0					3																	47289509		2203	4300	6503	SO:0001630	splice_region_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47289509A>T	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1128+1T>A	3.37:g.47289509A>T						KIF9_uc003cqx.2_Missense_Mutation_p.L376Q|KIF9_uc003cqy.2_Missense_Mutation_p.L376Q|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA	p.L376Q	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	1731	-		Acute lymphoblastic leukemia(5;0.164)	376			Potential.		Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1127T>A	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.243900	0.39697	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	4.93	3.75	0.43078	Kinesin, motor domain (1);	0.000000	0.64402	D	0.000018	T	0.79851	0.4517	M	0.65498	2.005	0.44402	D	0.997316	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77273	-0.2649	10	0.42905	T	0.14	.	9.1896	0.37191	0.8372:0.0:0.0:0.1628	.	376;376	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	Q	376;376;376;376;283	ENSP00000333942:L376Q;ENSP00000265529:L376Q;ENSP00000414987:L376Q;ENSP00000391100:L376Q;ENSP00000292334:L283Q	ENSP00000265529:L376Q	L	-	2	0	KIF9	47264513	1.000000	0.71417	0.998000	0.56505	0.012000	0.07955	6.997000	0.76270	0.708000	0.31955	-0.710000	0.03640	CTG		PASS	0.582	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		Missense_Mutation	105	107	105	107	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48604105	48604105	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:48604105C>T	ENST00000328333.8	-	111	8399	c.8292G>A	c.(8290-8292)gaG>gaA	p.E2764E	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000454817.1_Silent_p.E2732E|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2764	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E2764E(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCCCTCTCTCGCCAGGAG	0.622																																						uc003ctz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(8290-8292)GAG>GAA		alpha 1 type VII collagen precursor							120.0	130.0	127.0					3																	48604105		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48604105C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8292G>A	3.37:g.48604105C>T						UCN2_uc003cty.1_5'Flank	p.E2764E	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	111	8293	-			2764			Triple-helical region.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.8292G>A	CCDS2773.1																																																																																				PASS	0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		93	87	93	87	---	---	---	---
SEMA3B	7869	broad.mit.edu	37	3	50313140	50313140	+	RNA	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:50313140G>A	ENST00000418948.1	+	0	1944							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.S569S(1)		central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCAAGACTCGTCTCGTCCCG	0.657																																						uc003cyu.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6						c.(1708-1710)TCG>TCA		semaphorin 3B isoform 1 precursor							44.0	47.0	46.0					3																	50313140		1997	4155	6152			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50313140G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50313140G>A						SEMA3B_uc003cyt.2_Silent_p.S569S|SEMA3B_uc003cyv.2_Silent_p.S457S|SEMA3B_uc003cyw.2_Silent_p.S293S|SEMA3B_uc010hli.2_Silent_p.S462S|SEMA3B_uc003cyx.2_Silent_p.S456S|SEMA3B_uc003cyy.2_Silent_p.S227S|SEMA3B_uc011bdo.1_Silent_p.S227S	p.S570S	NM_004636	NP_004627	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	18	1952	+			570					Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Silent	SNP	ENST00000418948.1	37	c.1710G>A																																																																																					PASS	0.657	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		15	33	15	33	---	---	---	---
SEMA3G	56920	broad.mit.edu	37	3	52476800	52476800	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:52476800G>C	ENST00000231721.2	-	2	238	c.239C>G	c.(238-240)tCt>tGt	p.S80C		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	80	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.S80C(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CAGCCGCAGAGAGTAGAGGGC	0.632																																						uc003dea.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(238-240)TCT>TGT		semaphorin sem2 precursor							55.0	59.0	58.0					3																	52476800		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52476800G>C		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.239C>G	3.37:g.52476800G>C	ENSP00000231721:p.Ser80Cys						p.S80C	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	2	239	-			80			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.239C>G	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795351	0.50208	.	.	ENSG00000010319	ENST00000231721;ENST00000475739	T;T	0.12147	2.71;2.71	4.82	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	M	0.90483	3.12	0.40644	D	0.981975	D	0.89917	1.0	D	0.97110	1.0	T	0.60480	-0.7255	10	0.72032	D	0.01	.	17.4958	0.87717	0.0:0.0:1.0:0.0	.	80	Q9NS98	SEM3G_HUMAN	C	80;98	ENSP00000231721:S80C;ENSP00000419181:S98C	ENSP00000231721:S80C	S	-	2	0	SEMA3G	52451840	1.000000	0.71417	0.973000	0.42090	0.182000	0.23217	5.465000	0.66725	2.230000	0.72887	0.561000	0.74099	TCT		PASS	0.632	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		13	8	13	8	---	---	---	---
FRMD4B	23150	broad.mit.edu	37	3	69435102	69435102	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:69435102C>A	ENST00000398540.3	-	1	122	c.39G>T	c.(37-39)ctG>ctT	p.L13L	FRMD4B_ENST00000497757.1_Intron|FRMD4B_ENST00000542259.1_5'UTR	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	13					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)		p.L13L(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGCCGCTGAACAGCAGGTCCT	0.657																																						uc003dnv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(37-39)CTG>CTT		FERM domain containing 4B							28.0	37.0	34.0					3																	69435102		2164	4268	6432	SO:0001819	synonymous_variant	23150					cytoplasm|cytoskeleton	binding	g.chr3:69435102C>A	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.39G>T	3.37:g.69435102C>A						FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dny.2_Silent_p.L13L	p.L13L	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	1	329	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	13					Q8TAI3	Silent	SNP	ENST00000398540.3	37	c.39G>T	CCDS46863.1																																																																																				PASS	0.657	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			5	2	5	2	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868308	97868308	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:97868308C>A	ENST00000437310.1	+	1	139	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.(=)(1)|p.L27M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAAATACCCCTGTTCCTGGC	0.418																																						uc003dsg.1																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	skin(1)	1						c.(79-81)CTG>ATG		olfactory receptor, family 5, subfamily H,							79.0	83.0	82.0					3																	97868308		2202	4279	6481	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868308C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.79C>A	3.37:g.97868308C>A	ENSP00000401706:p.Leu27Met						p.L27M	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	79	+			27			Extracellular (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.79C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511852	0.27036	.	.	ENSG00000236032	ENST00000437310	T	0.17054	2.3	2.49	1.58	0.23477	.	0.574919	0.13355	N	0.394066	T	0.44286	0.1286	M	0.93197	3.39	0.09310	N	0.999991	D	0.55385	0.971	P	0.61800	0.894	T	0.24368	-1.0162	10	0.72032	D	0.01	.	6.9622	0.24603	0.0:0.8461:0.0:0.1539	.	27	A6NHG9	O5H14_HUMAN	M	27	ENSP00000401706:L27M	ENSP00000401706:L27M	L	+	1	2	OR5H14	99350998	0.006000	0.16342	0.829000	0.32907	0.396000	0.30629	0.384000	0.20668	0.365000	0.24400	0.195000	0.17529	CTG		PASS	0.418	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			114	453	114	453	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99514435	99514435	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:99514435C>A	ENST00000261037.3	+	5	2070	c.1690C>A	c.(1690-1692)Cct>Act	p.P564T	COL8A1_ENST00000273342.4_Missense_Mutation_p.P564T	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	564	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.P564T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						acccccaggccctccaggacc	0.637																																						uc003dtg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1690-1692)CCT>ACT		alpha 1 type VIII collagen precursor							26.0	30.0	29.0					3																	99514435		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514435C>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1690C>A	3.37:g.99514435C>A	ENSP00000261037:p.Pro564Thr					COL8A1_uc003dth.1_Missense_Mutation_p.P564T|COL8A1_uc003dti.1_Missense_Mutation_p.P565T	p.P564T	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	1935	+			564			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.1690C>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488104	0.26686	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.93247	-3.19;-3.19	5.68	5.68	0.88126	.	0.052160	0.85682	D	0.000000	D	0.95928	0.8674	M	0.81614	2.55	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.63283	0.913;0.913	D	0.94042	0.7310	10	0.13853	T	0.58	.	17.2855	0.87140	0.0:1.0:0.0:0.0	.	565;564	E7EPK9;P27658	.;CO8A1_HUMAN	T	564	ENSP00000261037:P564T;ENSP00000273342:P564T	ENSP00000261037:P564T	P	+	1	0	COL8A1	100997125	0.997000	0.39634	1.000000	0.80357	0.944000	0.59088	4.792000	0.62467	2.688000	0.91661	0.563000	0.77884	CCT		PASS	0.637	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		67	42	67	42	---	---	---	---
NXPE3	91775	broad.mit.edu	37	3	101535666	101535666	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:101535666G>T	ENST00000491511.2	+	7	1906	c.950G>T	c.(949-951)gGc>gTc	p.G317V	NXPE3_ENST00000273347.5_Missense_Mutation_p.G317V|NXPE3_ENST00000477909.1_Missense_Mutation_p.G317V|NXPE3_ENST00000422132.1_Missense_Mutation_p.G317V	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	317						extracellular region (GO:0005576)		p.G317V(1)									CTATCTCAAGGCTCAGGAACT	0.358																																						uc003dvn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(949-951)GGC>GTC		hypothetical protein LOC91775 precursor							64.0	66.0	65.0					3																	101535666		2203	4300	6503	SO:0001583	missense	91775					extracellular region		g.chr3:101535666G>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.950G>T	3.37:g.101535666G>T	ENSP00000417485:p.Gly317Val					FAM55C_uc010hpn.2_Missense_Mutation_p.G317V	p.G317V	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			7	1587	+			317					A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.950G>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	2.911	-0.225251	0.06022	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.86	4.06	0.47325	.	1.001760	0.08041	N	0.995173	T	0.13415	0.0325	L	0.43152	1.355	0.47476	D	0.999437	B	0.16603	0.018	B	0.18263	0.021	T	0.06391	-1.0829	10	0.16896	T	0.51	-7.5025	9.6922	0.40136	0.2637:0.0:0.7363:0.0	.	317	Q969Y0	FA55C_HUMAN	V	317	ENSP00000273347:G317V;ENSP00000417485:G317V;ENSP00000418369:G317V;ENSP00000396421:G317V	ENSP00000273347:G317V	G	+	2	0	FAM55C	103018356	0.992000	0.36948	1.000000	0.80357	0.008000	0.06430	0.940000	0.28992	0.918000	0.36919	-0.157000	0.13467	GGC		PASS	0.358	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		19	229	19	229	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111632246	111632246	+	Silent	SNP	C	C	T	rs112434778		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:111632246C>T	ENST00000431670.2	+	3	1827	c.1416C>T	c.(1414-1416)acC>acT	p.T472T	PHLDB2_ENST00000393923.3_Silent_p.T499T|PHLDB2_ENST00000481953.1_Silent_p.T472T|PHLDB2_ENST00000393925.3_Silent_p.T472T|PHLDB2_ENST00000477695.1_Silent_p.T472T|PHLDB2_ENST00000495180.1_Silent_p.T58T|PHLDB2_ENST00000412622.1_Silent_p.T472T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	472						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.T472T(2)|p.T499T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGGGACCACCGTGGAAGATG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19291	0.0		0.0	False		,,,				2504	0.0					uc010hqa.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|skin(2)	6						c.(1414-1416)ACC>ACT		pleckstrin homology-like domain, family B,		C	,,,	1,4405	2.1+/-5.4	0,1,2202	113.0	111.0	112.0		1497,1416,1416,1416	-5.1	0.8	3	dbSNP_132	112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PHLDB2	NM_001134437.1,NM_001134438.1,NM_001134439.1,NM_145753.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	499/1238,472/1254,472/1254,472/1211	111632246	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632246C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1416C>T	3.37:g.111632246C>T						PHLDB2_uc003dyc.2_Silent_p.T499T|PHLDB2_uc003dyd.2_Silent_p.T472T|PHLDB2_uc003dyg.2_Silent_p.T472T|PHLDB2_uc003dyh.2_Silent_p.T472T|PHLDB2_uc003dyi.2_Silent_p.T58T|PHLDB2_uc003dyf.3_Silent_p.T472T	p.T472T	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			3	1827	+			472					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.1416C>T	CCDS46886.1																																																																																				PASS	0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		90	335	90	335	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113320481	113320481	+	Silent	SNP	C	C	T	rs201820793		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:113320481C>T	ENST00000264852.4	+	11	1818	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	SIDT1_ENST00000393830.3_Silent_p.P364P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	364					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.P364P(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCAGCACACCCGAAGGGAGCA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		19776	0.001		0.0	False		,,,				2504	0.0					uc003eak.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1090-1092)CCC>CCT		SID1 transmembrane family, member 1 precursor							113.0	100.0	104.0					3																	113320481		2203	4300	6503	SO:0001819	synonymous_variant	54847					integral to membrane		g.chr3:113320481C>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1092C>T	3.37:g.113320481C>T						SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.P364P|SIDT1_uc011big.1_Silent_p.P117P|SIDT1_uc011bih.1_5'Flank	p.P364P	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			11	1743	+			364			Cytoplasmic (Potential).		Q17RR4	Silent	SNP	ENST00000264852.4	37	c.1092C>T	CCDS2974.1																																																																																				PASS	0.428	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		21	130	21	130	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113524219	113524219	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:113524219G>C	ENST00000273398.3	+	14	1716	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Missense_Mutation_p.K503N	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	536					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.K536N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CATTCTACAAGACAGTAGGGA	0.358																																						uc003eao.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1606-1608)AAG>AAC		ATPase, H+ transporting, lysosomal V1 subunit A							107.0	100.0	103.0					3																	113524219		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113524219G>C	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1608G>C	3.37:g.113524219G>C	ENSP00000273398:p.Lys536Asn					ATP6V1A_uc011bik.1_Missense_Mutation_p.K503N	p.K536N	NM_001690	NP_001681	P38606	VATA_HUMAN			14	1674	+			536					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.1608G>C	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722189	0.68959	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.79749	-1.3;-1.3	5.96	5.09	0.68999	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92221	0.7533	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93148	0.6547	10	0.87932	D	0	-9.5702	9.3985	0.38417	0.2234:0.0:0.7766:0.0	.	536	P38606	VATA_HUMAN	N	253;536;503	ENSP00000273398:K536N;ENSP00000439874:K503N	ENSP00000273398:K536N	K	+	3	2	ATP6V1A	115006909	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.403000	0.66338	1.535000	0.49220	-0.150000	0.13652	AAG		PASS	0.358	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		49	224	49	224	---	---	---	---
ZDHHC23	254887	broad.mit.edu	37	3	113672693	113672693	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:113672693T>G	ENST00000330212.3	+	3	607	c.308T>G	c.(307-309)cTt>cGt	p.L103R	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.L97R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	103					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.L103R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CCTGTCTTCCTTCATGTGGCT	0.512																																						uc003eau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(307-309)CTT>CGT		zinc finger, DHHC domain containing 23							223.0	194.0	204.0					3																	113672693		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113672693T>G	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.308T>G	3.37:g.113672693T>G	ENSP00000330485:p.Leu103Arg					ZDHHC23_uc003eav.2_Missense_Mutation_p.L97R	p.L103R	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN			3	607	+			103			Helical; (Potential).		D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.308T>G	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159495	0.78226	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	T;T;T	0.58210	0.5;0.53;0.35	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77517	-0.2558	10	0.87932	D	0	-4.0654	15.8834	0.79222	0.0:0.0:0.0:1.0	.	103	Q8IYP9	ZDH23_HUMAN	R	103;97;103	ENSP00000330485:L103R;ENSP00000417840:L97R;ENSP00000420292:L103R	ENSP00000330485:L103R	L	+	2	0	ZDHHC23	115155383	1.000000	0.71417	0.878000	0.34440	0.920000	0.55202	7.449000	0.80643	2.158000	0.67659	0.379000	0.24179	CTT		PASS	0.512	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		8	751	8	751	---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118865502	118865502	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:118865502A>G	ENST00000295622.1	+	1	506	c.466A>G	c.(466-468)Aga>Gga	p.R156G	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	156								p.R156G(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCAGGCTGAGAGAAGAACTTC	0.502																																						uc003ecb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(466-468)AGA>GGA		hypothetical protein LOC152405							57.0	57.0	57.0					3																	118865502		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865502A>G	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.466A>G	3.37:g.118865502A>G	ENSP00000295622:p.Arg156Gly					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R156G	p.R156G	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	506	+			156					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.466A>G	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.09|12.09	1.832981|1.832981	0.32421|0.32421	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150|ENST00000295622;ENST00000470341	T|T	0.26810|0.25414	1.71|1.8	3.44|3.44	-1.99|-1.99	0.07457|0.07457	.|.	.|4.401410	.|0.00970	.|N	.|0.003235	T|T	0.19127|0.19127	0.0459|0.0459	L|L	0.37630|0.37630	1.12|1.12	0.09310|0.09310	N|N	1|1	.|B;P	.|0.41450	.|0.022;0.75	.|B;B	.|0.41917	.|0.009;0.37	T|T	0.07947|0.07947	-1.0746|-1.0746	6|10	.|0.22109	.|T	.|0.4	0.009|0.009	1.0752|1.0752	0.01630|0.01630	0.2847:0.3439:0.2262:0.1452|0.2847:0.3439:0.2262:0.1452	.|.	.|156;156	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	G|G	119|156	ENSP00000418207:E119G|ENSP00000295622:R156G	.|ENSP00000295622:R156G	E|R	+|+	2|1	0|2	C3orf30|C3orf30	120348192|120348192	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.556000|-0.556000	0.05992|0.05992	-0.376000|-0.376000	0.07943|0.07943	0.460000|0.460000	0.39030|0.39030	GAG|AGA		PASS	0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		38	136	38	136	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127327752	127327752	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:127327752C>T	ENST00000265056.7	+	8	1558	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	438					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.V438V(1)		ovary(3)|skin(2)|stomach(1)	6						TTGCCACTGTCATCCTAGCCA	0.527																																						uc003ejp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1312-1314)GTC>GTT		minichromosome maintenance complex component 2							175.0	151.0	159.0					3																	127327752		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327752C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1314C>T	3.37:g.127327752C>T						MCM2_uc011bkm.1_Silent_p.V308V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.V322V	p.V438V	NM_004526	NP_004517	P49736	MCM2_HUMAN			8	1371	+			438					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1314C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	9.926	1.213435	0.22289	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.25	3.07	0.35406	.	.	.	.	.	T	0.44767	0.1309	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37572	-0.9700	4	.	.	.	-46.7591	2.2848	0.04124	0.1322:0.4809:0.1455:0.2414	.	.	.	.	L	301	.	.	S	+	2	0	MCM2	128810442	0.977000	0.34250	1.000000	0.80357	0.993000	0.82548	0.096000	0.15147	1.176000	0.42840	0.591000	0.81541	TCA		PASS	0.527	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			55	312	55	312	---	---	---	---
ACAD9	28976	broad.mit.edu	37	3	128612406	128612406	+	Nonsense_Mutation	SNP	C	C	T	rs148694290		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:128612406C>T	ENST00000308982.7	+	3	334	c.253C>T	c.(253-255)Cga>Tga	p.R85*		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	85						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.R85*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTGGACTCCCGAAAAATTGA	0.358																																						uc003ela.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(253-255)CGA>TGA		acyl-Coenzyme A dehydrogenase family, member 9		C	stop/ARG	0,4404		0,0,2202	40.0	45.0	44.0		253	1.4	0.8	3	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ACAD9	NM_014049.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		85/622	128612406	1,13003	2202	4300	6502	SO:0001587	stop_gained	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128612406C>T	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.253C>T	3.37:g.128612406C>T	ENSP00000312618:p.Arg85*					ACAD9_uc010hsw.1_5'UTR|ACAD9_uc011bks.1_5'UTR|ACAD9_uc003elb.2_5'UTR	p.R85*	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			3	455	+			85					D3DNB8|Q8WXX3	Nonsense_Mutation	SNP	ENST00000308982.7	37	c.253C>T	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771832	0.69992	0.0	1.16E-4	ENSG00000177646	ENST00000308982;ENST00000514336	.	.	.	5.67	1.36	0.22044	.	0.716552	0.13767	N	0.364170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	9.0522	0.36383	0.4677:0.4089:0.1234:0.0	.	.	.	.	X	85;97	.	ENSP00000312618:R85X	R	+	1	2	ACAD9	130095096	0.001000	0.12720	0.765000	0.31456	0.980000	0.70556	0.924000	0.28777	0.702000	0.31825	0.563000	0.77884	CGA		PASS	0.358	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		4	121	4	121	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147114007	147114007	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:147114007A>G	ENST00000383075.3	-	3	832	c.320T>C	c.(319-321)cTc>cCc	p.L107P	ZIC4_ENST00000425731.3_Missense_Mutation_p.L145P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.L107P|ZIC4_ENST00000473123.1_Missense_Mutation_p.L107P|ZIC4_ENST00000525172.2_Missense_Mutation_p.L157P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	107						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L107P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGCGCAGCGAGGTTCACCGT	0.711																																						uc003ewd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(319-321)CTC>CCC		zinc finger protein of the cerebellum 4							23.0	29.0	27.0					3																	147114007		2190	4293	6483	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114007A>G	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.320T>C	3.37:g.147114007A>G	ENSP00000372553:p.Leu107Pro					ZIC4_uc003ewc.1_Missense_Mutation_p.L37P|ZIC4_uc011bno.1_Missense_Mutation_p.L157P	p.L107P	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	593	-			107					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.320T>C	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174508	0.78452	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	4.98	4.98	0.66077	.	0.000000	0.40554	N	0.001064	T	0.44201	0.1282	L	0.58101	1.795	0.80722	D	1	D;P	0.54397	0.966;0.895	P;B	0.49421	0.61;0.424	T	0.38908	-0.9639	10	0.41790	T	0.15	.	14.6674	0.68918	1.0:0.0:0.0:0.0	.	157;107	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	P	107;145;157;107;107;107	ENSP00000372553:L107P;ENSP00000397695:L145P;ENSP00000435509:L157P;ENSP00000417855:L107P;ENSP00000420775:L107P;ENSP00000420627:L107P	ENSP00000372553:L107P	L	-	2	0	ZIC4	148596697	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	8.898000	0.92538	1.864000	0.54056	0.459000	0.35465	CTC		PASS	0.711	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			37	41	37	41	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128194	147128194	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:147128194G>T	ENST00000282928.4	+	1	1024	c.295G>T	c.(295-297)Gac>Tac	p.D99Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	99					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D99Y(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCCACGCGGGACTTTCTGTT	0.701																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(295-297)GAC>TAC		zinc finger protein of the cerebellum 1							14.0	17.0	16.0					3																	147128194		2082	4242	6324	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128194G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.295G>T	3.37:g.147128194G>T	ENSP00000282928:p.Asp99Tyr						p.D99Y	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1014	+			99					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.295G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885809	0.51908	.	.	ENSG00000152977	ENST00000282928	T	0.51574	0.7	4.17	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.80616	2.505	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.73357	-0.4008	10	0.87932	D	0	.	12.5068	0.55986	0.0:0.0:0.8322:0.1678	.	99	Q15915	ZIC1_HUMAN	Y	99	ENSP00000282928:D99Y	ENSP00000282928:D99Y	D	+	1	0	ZIC1	148610884	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.686000	0.84128	1.878000	0.54408	0.542000	0.68232	GAC		PASS	0.701	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		6	50	6	50	---	---	---	---
AGTR1	185	broad.mit.edu	37	3	148459455	148459455	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:148459455T>G	ENST00000497524.1	+	2	1024	c.633T>G	c.(631-633)atT>atG	p.I211M	AGTR1_ENST00000475347.1_Missense_Mutation_p.I211M|AGTR1_ENST00000402260.1_Missense_Mutation_p.I211M|AGTR1_ENST00000418473.2_Missense_Mutation_p.I211M|AGTR1_ENST00000349243.3_Missense_Mutation_p.I211M|AGTR1_ENST00000474935.1_Missense_Mutation_p.I211M|AGTR1_ENST00000542281.1_Missense_Mutation_p.I211M|AGTR1_ENST00000461609.1_Missense_Mutation_p.I211M|AGTR1_ENST00000404754.2_Missense_Mutation_p.I211M	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	211					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.I211M(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTCTGATCATTCTTACAAGTT	0.368																																						uc003ewg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)ATT>ATG		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						57.0	63.0	61.0					3																	148459455		2197	4299	6496	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459455T>G	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.633T>G	3.37:g.148459455T>G	ENSP00000419422:p.Ile211Met					AGTR1_uc003ewh.2_Missense_Mutation_p.I211M|AGTR1_uc003ewi.2_Missense_Mutation_p.I211M|AGTR1_uc003ewj.2_Missense_Mutation_p.I211M|AGTR1_uc003ewk.2_Missense_Mutation_p.I211M	p.I211M	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1079	+			211			Helical; Name=5; (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.633T>G	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865091	0.51482	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.48	0.567	0.17325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.45137	1.4	0.49483	D	0.999794	D	0.89917	1.0	D	0.91635	0.999	T	0.41858	-0.9485	10	0.12103	T	0.63	-18.9271	5.3198	0.15876	0.1277:0.284:0.0:0.5883	.	211	P30556	AGTR1_HUMAN	M	211	ENSP00000419422:I211M;ENSP00000273430:I211M;ENSP00000443186:I211M;ENSP00000398832:I211M;ENSP00000385612:I211M;ENSP00000419783:I211M;ENSP00000418084:I211M;ENSP00000418851:I211M;ENSP00000385641:I211M	ENSP00000273430:I211M	I	+	3	3	AGTR1	149942145	0.974000	0.33945	1.000000	0.80357	0.991000	0.79684	0.169000	0.16641	0.079000	0.16929	0.533000	0.62120	ATT		PASS	0.368	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			31	170	31	170	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012946	151012946	+	Missense_Mutation	SNP	G	G	A	rs531293531	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:151012946G>A	ENST00000260843.4	-	3	552	c.88C>T	c.(88-90)Cca>Tca	p.P30S	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	30					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.P30S(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTTTCCTGGCCCGTCGCTC	0.483													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20046	0.0		0.0	False		,,,				2504	0.0					uc003eyt.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(88-90)CCA>TCA		G protein-coupled receptor 87							82.0	80.0	80.0					3																	151012946		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012946G>A	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.88C>T	3.37:g.151012946G>A	ENSP00000260843:p.Pro30Ser					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.P30S	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	449	-			30			Extracellular (Potential).		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.88C>T	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	9.025	0.985749	0.18889	.	.	ENSG00000138271	ENST00000260843	T	0.38240	1.15	5.31	0.338	0.15974	.	0.885736	0.09784	N	0.756224	T	0.16428	0.0395	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31668	-0.9935	10	0.06099	T	0.92	-0.1783	6.1746	0.20437	0.4098:0.1235:0.4667:0.0	.	30	Q9BY21	GPR87_HUMAN	S	30	ENSP00000260843:P30S	ENSP00000260843:P30S	P	-	1	0	GPR87	152495636	0.001000	0.12720	0.000000	0.03702	0.087000	0.18053	0.861000	0.27885	-0.152000	0.11156	0.655000	0.94253	CCA		PASS	0.483	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			33	353	33	353	---	---	---	---
MME	4311	broad.mit.edu	37	3	154864963	154864963	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:154864963C>G	ENST00000460393.1	+	15	1567	c.1447C>G	c.(1447-1449)Cct>Gct	p.P483A	MME_ENST00000492661.1_Missense_Mutation_p.P483A|MME_ENST00000462745.1_Missense_Mutation_p.P483A|MME_ENST00000493237.1_Missense_Mutation_p.P483A|MME_ENST00000360490.2_Missense_Mutation_p.P483A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	483					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.P483A(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GATCGGCTATCCTGATGACAT	0.328																																						uc010hvr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1447-1449)CCT>GCT		membrane metallo-endopeptidase	Candoxatril(DB00616)						80.0	85.0	83.0					3																	154864963		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154864963C>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1447C>G	3.37:g.154864963C>G	ENSP00000418525:p.Pro483Ala					MME_uc003fab.1_Missense_Mutation_p.P483A|MME_uc003fac.1_Missense_Mutation_p.P483A|MME_uc003fad.1_Missense_Mutation_p.P483A|MME_uc003fae.1_Missense_Mutation_p.P483A	p.P483A	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		15	1658	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	483			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1447C>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921570	0.73213	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.84	5.84	0.93424	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.195832	0.47093	D	0.000260	D	0.93135	0.7814	M	0.86343	2.81	0.52501	D	0.999956	D	0.64830	0.994	P	0.62435	0.902	D	0.93443	0.6795	10	0.72032	D	0.01	-17.1551	20.1379	0.98040	0.0:1.0:0.0:0.0	.	483	P08473	NEP_HUMAN	A	483	ENSP00000420389:P483A;ENSP00000418525:P483A;ENSP00000419653:P483A;ENSP00000417079:P483A;ENSP00000353679:P483A	ENSP00000353679:P483A	P	+	1	0	MME	156347657	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.417000	0.59822	2.779000	0.95612	0.655000	0.94253	CCT		PASS	0.328	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		16	256	16	256	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155200211	155200211	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:155200211C>T	ENST00000340059.7	-	23	3627	c.3628G>A	c.(3628-3630)Gct>Act	p.A1210T	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.A1172T|PLCH1_ENST00000460012.1_Missense_Mutation_p.A1172T|PLCH1_ENST00000334686.6_Missense_Mutation_p.A1172T|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1210					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.A1210T(1)|p.A1172T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTGTGAGAGCCTGATTGTTG	0.448																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(3628-3630)GCT>ACT		phospholipase C eta 1 isoform a							67.0	67.0	67.0					3																	155200211		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200211C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3628G>A	3.37:g.155200211C>T	ENSP00000345988:p.Ala1210Thr					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.A1172T	p.A1210T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3905	-			1210					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3628G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	5.926	0.354847	0.11239	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.28	3.17	0.36434	.	0.839650	0.10911	N	0.620613	T	0.17746	0.0426	N	0.12746	0.255	0.09310	N	1	B;B	0.17667	0.023;0.013	B;B	0.12156	0.007;0.003	T	0.34576	-0.9823	10	0.06099	T	0.92	.	1.6356	0.02741	0.3197:0.39:0.0:0.2903	.	1172;1210	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	T	1172;1210;1172;1172	ENSP00000417502:A1172T;ENSP00000345988:A1210T;ENSP00000335469:A1172T;ENSP00000412977:A1172T	ENSP00000335469:A1172T	A	-	1	0	PLCH1	156682905	0.946000	0.32159	0.011000	0.14972	0.024000	0.10985	2.664000	0.46783	1.187000	0.43000	0.585000	0.79938	GCT		PASS	0.448	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		48	170	48	170	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906409	164906410	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:164906409_164906410CC>AT	ENST00000475390.1	-	2	2652_2653	c.2209_2210GG>AT	c.(2209-2211)GGt>ATt	p.G737I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G737I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	737					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G737V(1)|p.G737I(1)|p.G737S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATACACATGACCCACGGGAGGG	0.579										HNSCC(40;0.11)																												uc003fej.3																			3	Substitution - Missense(3)		lung(3)	ovary(6)|skin(3)|pancreas(1)	10						c.(2209-2211)GGT>GTT|c.(2209-2211)GGT>AGT		slit and trk like 3 protein precursor																																				SO:0001583	missense	22865					integral to membrane		g.chr3:164906409C>A|g.chr3:164906410C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2209_2210delinsAT	3.37:g.164906409_164906410delinsAT	ENSP00000420091:p.Gly737Ile	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.G737V|SLITRK3_uc003fek.2_Missense_Mutation_p.G737S	p.G737V|p.G737S	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2654|2653	-			737			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2210G>T|c.2209G>A	CCDS3197.1																																																																																				PASS	0.579	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		29|28	210|206	28	206	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547936	165547936	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:165547936C>G	ENST00000264381.3	-	2	1052	c.886G>C	c.(886-888)Gat>Cat	p.D296H	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	296					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.D296H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCTTGGGGATCTTTATTTCTA	0.393																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(886-888)GAT>CAT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						65.0	70.0	68.0					3																	165547936		2201	4299	6500	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547936C>G	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.886G>C	3.37:g.165547936C>G	ENSP00000264381:p.Asp296His					BCHE_uc003fen.3_Intron	p.D296H	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1046	-			296					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.886G>C	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	5.891	0.348538	0.11126	.	.	ENSG00000114200	ENST00000264381	T	0.68479	-0.33	5.42	3.35	0.38373	Carboxylesterase, type B (1);	0.465331	0.25919	N	0.027458	T	0.61553	0.2356	M	0.72624	2.21	0.58432	D	0.999998	B	0.19200	0.034	B	0.24701	0.055	T	0.62567	-0.6827	10	0.44086	T	0.13	.	6.5706	0.22537	0.0:0.673:0.1659:0.161	.	296	P06276	CHLE_HUMAN	H	296	ENSP00000264381:D296H	ENSP00000264381:D296H	D	-	1	0	BCHE	167030630	0.974000	0.33945	1.000000	0.80357	0.437000	0.31866	0.605000	0.24179	2.546000	0.85860	0.655000	0.94253	GAT		PASS	0.393	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			42	268	42	268	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167248946	167248946	+	Missense_Mutation	SNP	C	C	A	rs200071051		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:167248946C>A	ENST00000308378.3	-	9	1424	c.1119G>T	c.(1117-1119)atG>atT	p.M373I	WDR49_ENST00000453925.2_Missense_Mutation_p.M437I|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.M198I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	373								p.M373I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGCAAAGTCTCATAACAGCAT	0.418																																						uc003fev.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1117-1119)ATG>ATT		WD repeat domain 49							83.0	85.0	84.0					3																	167248946		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167248946C>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1119G>T	3.37:g.167248946C>A	ENSP00000311343:p.Met373Ile					WDR49_uc003feu.1_Missense_Mutation_p.M198I|WDR49_uc011bpd.1_Missense_Mutation_p.M437I|WDR49_uc003few.1_Intron	p.M373I	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			9	1425	-			373			WD 6.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1119G>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.718|7.718	0.696519|0.696519	0.15106|0.15106	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600;ENST00000493061	T;T;T|.	0.39787|.	1.61;1.34;1.06|.	5.55|5.55	4.67|4.67	0.58626|0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.556427|.	0.21073|.	N|.	0.080631|.	T|.	0.38054|.	0.1026|.	L|L	0.39692|0.39692	1.235|1.235	0.23640|0.23640	N|N	0.997224|0.997224	B;B|.	0.28801|.	0.223;0.01|.	B;B|.	0.19391|.	0.025;0.006|.	T|.	0.20472|.	-1.0274|.	10|.	0.26408|.	T|.	0.33|.	.|.	7.5205|7.5205	0.27624|0.27624	0.0:0.8234:0.0:0.1766|0.0:0.8234:0.0:0.1766	.|.	437;373|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	I|L	373;198;437|449;11	ENSP00000311343:M373I;ENSP00000420508:M198I;ENSP00000410863:M437I|.	ENSP00000311343:M373I|.	M|X	-|-	3|2	0|2	WDR49|WDR49	168731640|168731640	0.004000|0.004000	0.15560|0.15560	0.763000|0.763000	0.31416|0.31416	0.102000|0.102000	0.19082|0.19082	0.558000|0.558000	0.23469|0.23469	2.626000|2.626000	0.88956|0.88956	0.557000|0.557000	0.71058|0.71058	ATG|TGA		PASS	0.418	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		49	294	49	294	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			38	107	38	107	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180327770	180327770	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:180327770G>C	ENST00000296015.4	+	12	1885	c.1753G>C	c.(1753-1755)Gaa>Caa	p.E585Q	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.E585Q	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	585							RNA binding (GO:0003723)	p.E585Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATCTTCACTTGAAATACCGGA	0.383																																						uc003fkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1753-1755)GAA>CAA		tetratricopeptide repeat domain 14 isoform a							162.0	189.0	180.0					3																	180327770		2203	4297	6500	SO:0001583	missense	151613						RNA binding	g.chr3:180327770G>C	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1753G>C	3.37:g.180327770G>C	ENSP00000296015:p.Glu585Gln					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.E585Q	p.E585Q	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1885	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		585					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1753G>C	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524270	0.44866	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.55052	0.56;0.54	5.92	5.92	0.95590	.	0.058076	0.64402	D	0.000003	T	0.65101	0.2659	L	0.32530	0.975	0.80722	D	1	P;D	0.89917	0.664;1.0	B;D	0.69307	0.277;0.963	T	0.65899	-0.6056	10	0.72032	D	0.01	-13.6227	20.3081	0.98638	0.0:0.0:1.0:0.0	.	585;585	Q96N46-2;Q96N46	.;TTC14_HUMAN	Q	585	ENSP00000296015:E585Q;ENSP00000372027:E585Q	ENSP00000296015:E585Q	E	+	1	0	TTC14	181810464	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.151000	0.58105	2.795000	0.96236	0.655000	0.94253	GAA		PASS	0.383	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		23	872	23	872	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180630511	180630511	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:180630511G>T	ENST00000357559.4	+	1	422	c.38G>T	c.(37-39)gGg>gTg	p.G13V	FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000491674.1_Missense_Mutation_p.G13V|FXR1_ENST00000491062.1_Missense_Mutation_p.G13V|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000445140.2_Missense_Mutation_p.G13V|FXR1_ENST00000480918.1_5'Flank	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	13	Agenet-like 1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G13V(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGCTCTAACGGGGCTTTCTAC	0.572											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fkq.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(37-39)GGG>GTG		fragile X mental retardation-related protein 1							151.0	147.0	148.0					3																	180630511		2203	4300	6503	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180630511G>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.38G>T	3.37:g.180630511G>T	ENSP00000350170:p.Gly13Val		OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1963	FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Missense_Mutation_p.G13V|FXR1_uc011bqj.1_5'UTR|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Missense_Mutation_p.G13V|FXR1_uc011bql.1_5'Flank	p.G13V	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		1	60	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		13					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.38G>T	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960353	0.34565	.	.	ENSG00000114416	ENST00000357559;ENST00000491674;ENST00000491062;ENST00000445140	T;T;T	0.57436	1.38;0.4;0.73	4.59	3.7	0.42460	.	0.057442	0.64402	D	0.000001	T	0.72645	0.3486	M	0.86651	2.83	0.80722	D	1	D;P;P	0.89917	1.0;0.839;0.662	D;P;B	0.97110	1.0;0.66;0.323	T	0.76490	-0.2940	10	0.87932	D	0	-11.429	10.0166	0.42018	0.1:0.0:0.9:0.0	.	13;13;13	E9PFF5;P51114-2;P51114	.;.;FXR1_HUMAN	V	13	ENSP00000350170:G13V;ENSP00000420643:G13V;ENSP00000388828:G13V	ENSP00000350170:G13V	G	+	2	0	FXR1	182113205	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.556000	0.60775	2.484000	0.83849	0.561000	0.74099	GGG		PASS	0.572	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			70	352	70	352	---	---	---	---
MCCC1	56922	broad.mit.edu	37	3	182789018	182789018	+	Missense_Mutation	SNP	C	C	G	rs149268368		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:182789018C>G	ENST00000265594.4	-	6	765	c.619G>C	c.(619-621)Gtc>Ctc	p.V207L	MCCC1_ENST00000492597.1_Missense_Mutation_p.V98L|MCCC1_ENST00000539926.1_Missense_Mutation_p.V72L	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	207	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.V207L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCACCCCGGACGGCTTTAATC	0.443																																						uc003fle.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(619-621)GTC>CTC		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						97.0	101.0	100.0					3																	182789018		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182789018C>G	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.619G>C	3.37:g.182789018C>G	ENSP00000265594:p.Val207Leu					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.V90L|MCCC1_uc003flg.2_Missense_Mutation_p.V98L|MCCC1_uc011bqp.1_Missense_Mutation_p.V160L|MCCC1_uc011bqq.1_Missense_Mutation_p.V98L	p.V207L	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		6	756	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		207			Biotin carboxylation.|ATP-grasp.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.619G>C	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382784	0.82792	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.9	-0.0617	0.13784	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.163511	0.53938	D	0.000047	D	0.97145	0.9067	M	0.82323	2.585	0.58432	D	0.999997	P;P;P	0.51057	0.567;0.898;0.941	P;P;P	0.60173	0.501;0.835;0.87	D	0.95286	0.8390	10	0.48119	T	0.1	.	10.9082	0.47092	0.0:0.6357:0.0:0.3643	.	160;98;207	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	L	207;98;57;72;160;160;98	ENSP00000265594:V207L;ENSP00000419898:V98L;ENSP00000441253:V72L;ENSP00000420433:V160L	ENSP00000265594:V207L	V	-	1	0	MCCC1	184271712	0.509000	0.26163	0.032000	0.17829	0.994000	0.84299	1.186000	0.32078	-0.319000	0.08652	0.650000	0.86243	GTC		PASS	0.443	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		58	237	58	237	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182948794	182948794	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:182948794C>A	ENST00000328913.3	-	16	2171	c.1874G>T	c.(1873-1875)cGt>cTt	p.R625L	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R625L|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R625L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	625	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R625L(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGCAAGTCACGTATAATGCG	0.393																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1873-1875)CGT>CTT		Rho family guanine-nucleotide exchange factor							127.0	118.0	121.0					3																	182948794		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182948794C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1874G>T	3.37:g.182948794C>A	ENSP00000328118:p.Arg625Leu					MCF2L2_uc003flj.1_Missense_Mutation_p.R625L|MCF2L2_uc011bqr.1_RNA	p.R625L	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		16	1964	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		625			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1874G>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	7.345	0.621618	0.14193	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	T;T;T	0.63580	-0.05;-0.05;-0.05	5.25	-2.97	0.05530	Dbl homology (DH) domain (5);	0.736566	0.13057	N	0.417237	T	0.44435	0.1293	N	0.17723	0.515	0.21950	N	0.999451	B;B	0.18610	0.029;0.028	B;B	0.23574	0.047;0.046	T	0.34079	-0.9843	10	0.62326	D	0.03	.	11.3636	0.49657	0.0:0.3662:0.0:0.6338	.	625;625	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	L	625	ENSP00000328118:R625L;ENSP00000420070:R625L;ENSP00000388190:R625L	ENSP00000328118:R625L	R	-	2	0	MCF2L2	184431488	0.002000	0.14202	0.004000	0.12327	0.097000	0.18754	-0.517000	0.06275	-0.799000	0.04439	-1.094000	0.02160	CGT		PASS	0.393	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		28	150	28	150	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186358324	186358324	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:186358324C>A	ENST00000265029.3	+	1	176	c.75C>A	c.(73-75)gcC>gcA	p.A25A	FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382136.3_Silent_p.A25A|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Silent_p.A25A|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.A25A	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	25	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.A25A(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCCAGCTGGCCCTCAACCCCT	0.587																																						uc010hyq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(73-75)GCC>GCA		fetuin B precursor							158.0	161.0	160.0					3																	186358324		2203	4300	6503	SO:0001819	synonymous_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186358324C>A	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.75C>A	3.37:g.186358324C>A						FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Silent_p.A25A|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Silent_p.A25A|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Silent_p.A25A	p.A25A	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	2	336	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		25			Cystatin fetuin-B-type 1.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	ENST00000265029.3	37	c.75C>A	CCDS3279.1																																																																																				PASS	0.587	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		204	667	204	667	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186980461	186980461	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:186980461G>T	ENST00000337774.5	-	3	674	c.285C>A	c.(283-285)acC>acA	p.T95T	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Silent_p.T95T|MASP1_ENST00000169293.6_Silent_p.T95T|MASP1_ENST00000392470.2_Silent_p.T69T|MASP1_ENST00000392472.2_5'UTR	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	95	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.T95T(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTGTGTCTGTGGTCTCCCTGC	0.542																																						uc003frh.1																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|breast(1)|liver(1)	4						c.(283-285)ACC>ACA		mannan-binding lectin serine protease 1 isoform							71.0	67.0	68.0					3																	186980461		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186980461G>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.285C>A	3.37:g.186980461G>T						MASP1_uc003fri.2_Silent_p.T95T|MASP1_uc003frj.2_Silent_p.T64T|MASP1_uc003frk.1_Silent_p.T95T|MASP1_uc011bse.1_Silent_p.T69T	p.T95T	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	3	617	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		95			Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.285C>A	CCDS33907.1																																																																																				PASS	0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		20	97	20	97	---	---	---	---
RTP2	344892	broad.mit.edu	37	3	187419842	187419842	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:187419842G>C	ENST00000358241.1	-	1	503	c.75C>G	c.(73-75)gaC>gaG	p.D25E	RP11-211G3.3_ENST00000437407.1_5'Flank|RP11-211G3.3_ENST00000449623.1_5'Flank	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	25					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.D25E(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCTCCCAGCTGTCCGCTGGCT	0.577																																						uc003fro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GAC>GAG		receptor transporting protein 2							144.0	144.0	144.0					3																	187419842		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187419842G>C	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.75C>G	3.37:g.187419842G>C	ENSP00000350976:p.Asp25Glu						p.D25E	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	1	504	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		25			Cytoplasmic (Potential).		Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.75C>G	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372086	0.24857	.	.	ENSG00000198471	ENST00000358241	T	0.17528	2.27	4.61	0.832	0.18867	.	0.159759	0.53938	D	0.000054	T	0.25494	0.0620	L	0.48642	1.525	0.27068	N	0.963391	D	0.76494	0.999	D	0.68621	0.959	T	0.08310	-1.0728	10	0.27082	T	0.32	-50.1984	7.103	0.25348	0.3705:0.0:0.6295:0.0	.	25	Q5QGT7	RTP2_HUMAN	E	25	ENSP00000350976:D25E	ENSP00000350976:D25E	D	-	3	2	RTP2	188902536	1.000000	0.71417	0.990000	0.47175	0.114000	0.19823	0.884000	0.28214	0.137000	0.18759	-0.781000	0.03364	GAC		PASS	0.577	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		146	603	146	603	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188584118	188584118	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:188584118T>G	ENST00000312675.4	+	9	1787	c.1541T>G	c.(1540-1542)tTc>tGc	p.F514C	LPP_ENST00000543006.1_Missense_Mutation_p.F514C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	514	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.F514C(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGGATCCCATTCACTGTGGAT	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	1	Substitution - Missense(1)		lung(1)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(1540-1542)TTC>TGC		LIM domain containing preferred translocation							123.0	99.0	107.0					3																	188584118		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188584118T>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1541T>G	3.37:g.188584118T>G	ENSP00000318089:p.Phe514Cys					LPP_uc011bsg.1_Missense_Mutation_p.F367C|LPP_uc011bsi.1_Missense_Mutation_p.F514C|LPP_uc011bsj.1_Missense_Mutation_p.F351C	p.F514C	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	9	1787	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	514			LIM zinc-binding 2.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1541T>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860421	0.91433	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.88586	-2.4;-2.4	5.92	5.92	0.95590	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.96415	0.9307	10	0.87932	D	0	.	15.5459	0.76101	0.0:0.0:0.0:1.0	.	367;514	B7Z8W0;Q93052	.;LPP_HUMAN	C	514	ENSP00000318089:F514C;ENSP00000438891:F514C	ENSP00000318089:F514C	F	+	2	0	LPP	190066812	1.000000	0.71417	0.984000	0.44739	0.975000	0.68041	7.698000	0.84413	2.263000	0.75096	0.533000	0.62120	TTC		PASS	0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		45	176	45	176	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118433	194118433	+	Silent	SNP	C	C	T	rs200544767		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:194118433C>T	ENST00000401815.1	-	1	650	c.579G>A	c.(577-579)caG>caA	p.Q193Q	GP5_ENST00000323007.3_Silent_p.Q193Q			P40197	GPV_HUMAN	glycoprotein V (platelet)	193					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Q193Q(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGAGCTTAGCCTGTGCTCCAA	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17397	0.0		0.0	False		,,,				2504	0.0					uc003ftv.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|breast(1)	3						c.(577-579)CAG>CAA		glycoprotein V (platelet) precursor							72.0	78.0	76.0					3																	194118433		2203	4300	6503	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118433C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.579G>A	3.37:g.194118433C>T							p.Q193Q	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	610	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	193			Extracellular (Potential).|LRR 5.		D1MER9	Silent	SNP	ENST00000401815.1	37	c.579G>A	CCDS3307.1																																																																																				PASS	0.567	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		57	333	57	333	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118476	194118476	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:194118476C>T	ENST00000401815.1	-	1	607	c.536G>A	c.(535-537)gGa>gAa	p.G179E	GP5_ENST00000323007.3_Missense_Mutation_p.G179E			P40197	GPV_HUMAN	glycoprotein V (platelet)	179					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G179E(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CAGGTTGTTTCCCGATAAATC	0.537																																						uc003ftv.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|breast(1)	3						c.(535-537)GGA>GAA		glycoprotein V (platelet) precursor							69.0	74.0	72.0					3																	194118476		2203	4300	6503	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118476C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.536G>A	3.37:g.194118476C>T	ENSP00000383931:p.Gly179Glu						p.G179E	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	567	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	179			Extracellular (Potential).|LRR 5.		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.536G>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562247	0.45694	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.26067	1.76;1.76	4.82	0.776	0.18532	.	0.428958	0.17235	N	0.181761	T	0.15739	0.0379	L	0.28274	0.84	0.09310	N	1	P	0.38617	0.64	B	0.42386	0.386	T	0.22626	-1.0211	10	0.09338	T	0.73	.	6.5581	0.22471	0.0:0.5531:0.2381:0.2088	.	179	P40197	GPV_HUMAN	E	179	ENSP00000383931:G179E;ENSP00000319286:G179E	ENSP00000319286:G179E	G	-	2	0	GP5	195599765	0.000000	0.05858	0.011000	0.14972	0.992000	0.81027	-0.471000	0.06631	0.012000	0.14892	0.555000	0.69702	GGA		PASS	0.537	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		54	295	54	295	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195605216	195605216	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:195605216G>A	ENST00000333602.6	-	9	1781	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	TNK2_ENST00000428187.1_Silent_p.A420A|TNK2_ENST00000468819.1_5'Flank|TNK2_ENST00000316664.3_Silent_p.A388A|TNK2_ENST00000381916.2_Silent_p.A451A|TNK2_ENST00000392400.1_Silent_p.A388A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	388	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.A388A(2)|p.A451A(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTGTGGGCTGGGCCTGGAGGA	0.602																																						uc003fvu.1																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1162-1164)GCC>GCT		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						109.0	105.0	106.0					3																	195605216		2203	4300	6503	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195605216G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1164C>T	3.37:g.195605216G>A						TNK2_uc003fvs.1_Silent_p.A420A|TNK2_uc003fvt.1_Silent_p.A451A|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.A218A	p.A388A	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	9	1707	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	388	Missing (in Ref. 4; AAH08884).		SH3.		Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.1164C>T	CCDS33928.1																																																																																				PASS	0.602	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		127	359	127	359	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	494382	494382	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:494382C>A	ENST00000453061.2	+	2	458	c.352C>A	c.(352-354)Cga>Aga	p.R118R	ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000310340.5_Silent_p.R118R|PIGG_ENST00000509768.1_Silent_p.R29R|PIGG_ENST00000503111.1_Silent_p.R29R|PIGG_ENST00000296306.7_Silent_p.R29R|PIGG_ENST00000383028.4_Silent_p.R118R|PIGG_ENST00000502311.1_3'UTR|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000504346.1_Silent_p.R29R	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	118					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.R118R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TACTATGCCTCGAATCAAGGT	0.408																																						uc003gak.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(352-354)CGA>AGA		phosphatidylinositol glycan anchor biosynthesis,							85.0	76.0	79.0					4																	494382		2203	4300	6503	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:494382C>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.352C>A	4.37:g.494382C>A						PIGG_uc003gaj.3_Silent_p.R118R|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.R118R|PIGG_uc003gal.3_Silent_p.R29R|ZNF721_uc003gag.2_5'Flank|ZNF721_uc010ibe.2_5'Flank|ZNF721_uc003gah.1_5'Flank|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_5'UTR|PIGG_uc003gam.2_Silent_p.R29R|PIGG_uc003gan.2_Silent_p.R29R	p.R118R	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			2	488	+			118			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.352C>A	CCDS46992.1																																																																																				PASS	0.408	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		3	80	3	80	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20255601	20255601	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:20255601C>T	ENST00000504154.1	+	1	415	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	SLIT2_ENST00000273739.5_Missense_Mutation_p.R55C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R55C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R55C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	55	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.R55C(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAATATCCCCCGCAACACCGA	0.672																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(163-165)CGC>TGC		slit homolog 2 precursor							100.0	85.0	90.0					4																	20255601		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20255601C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.163C>T	4.37:g.20255601C>T	ENSP00000422591:p.Arg55Cys					SLIT2_uc003gps.1_Missense_Mutation_p.R55C	p.R55C	NM_004787	NP_004778	O94813	SLIT2_HUMAN			1	367	+			55			LRRNT.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.163C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492562	0.84962	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	3.98	3.98	0.46160	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.983	T	0.31779	-0.9931	10	0.72032	D	0.01	.	11.4694	0.50259	0.18:0.8199:0.0:0.0	.	55;55	O94813-3;O94813	.;SLIT2_HUMAN	C	55	ENSP00000427548:R55C;ENSP00000422591:R55C;ENSP00000273739:R55C;ENSP00000422261:R55C	ENSP00000273739:R55C	R	+	1	0	SLIT2	19864699	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.312000	0.43726	2.201000	0.70794	0.467000	0.42956	CGC		PASS	0.672	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			18	93	18	93	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39875994	39875994	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:39875994C>G	ENST00000303538.8	-	20	2731	c.2192G>C	c.(2191-2193)gGt>gCt	p.G731A		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.G731A(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTGTGGAGTACCCCTCTTTGC	0.343																																						uc003guv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2191-2193)GGT>GCT		PDS5, regulator of cohesion maintenance, homolog							135.0	123.0	127.0					4																	39875994		1827	4087	5914	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39875994C>G	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2192G>C	4.37:g.39875994C>G	ENSP00000303427:p.Gly731Ala					PDS5A_uc010ifo.2_Missense_Mutation_p.G691A	p.G731A	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			20	2732	-			731						Missense_Mutation	SNP	ENST00000303538.8	37	c.2192G>C	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066804	0.93898	.	.	ENSG00000121892	ENST00000303538	T	0.65549	-0.16	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.80246	-0.1462	9	.	.	.	-12.2772	19.1434	0.93455	0.0:1.0:0.0:0.0	.	731	Q29RF7	PDS5A_HUMAN	A	731	ENSP00000303427:G731A	.	G	-	2	0	PDS5A	39552389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.729000	0.84864	2.527000	0.85204	0.655000	0.94253	GGT		PASS	0.343	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		4	74	4	74	---	---	---	---
CHRNA9	55584	broad.mit.edu	37	4	40339267	40339267	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:40339267G>A	ENST00000310169.2	+	3	390	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	84					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.R84H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TTGTGGATCCGCCAAATCTGG	0.483																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	uc003gva.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(3)|central_nervous_system(1)	7						c.(250-252)CGC>CAC		cholinergic receptor, nicotinic, alpha 9	Nicotine(DB00184)																																			SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40339267G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.251G>A	4.37:g.40339267G>A	ENSP00000312663:p.Arg84His						p.R84H	NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN			3	267	+			84			Extracellular (Potential).		Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.251G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045322	0.93685	.	.	ENSG00000174343	ENST00000310169	T	0.80214	-1.35	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046822	0.85682	D	0.000000	D	0.90937	0.7151	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91105	0.4917	10	0.66056	D	0.02	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	84	Q9UGM1	ACHA9_HUMAN	H	84	ENSP00000312663:R84H	ENSP00000312663:R84H	R	+	2	0	CHRNA9	40034024	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.476000	0.97823	2.771000	0.95319	0.591000	0.81541	CGC		PASS	0.483	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			16	32	16	32	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44176896	44176896	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:44176896G>T	ENST00000360029.3	-	2	1616	c.1333C>A	c.(1333-1335)Cag>Aag	p.Q445K		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	445					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.Q445K(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAAAATCCTGAATACACTTT	0.388										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1333-1335)CAG>AAG		potassium channel tetramerisation domain							139.0	147.0	144.0					4																	44176896		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176896G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1333C>A	4.37:g.44176896G>T	ENSP00000353129:p.Gln445Lys	HNSCC(17;0.042)					p.Q445K	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1617	-			445					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1333C>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718552	0.48622	.	.	ENSG00000183783	ENST00000360029	T	0.38887	1.11	4.63	4.63	0.57726	.	0.000000	0.46758	D	0.000264	T	0.30696	0.0773	L	0.32530	0.975	0.37346	D	0.910604	P	0.41546	0.754	B	0.30316	0.114	T	0.48340	-0.9044	10	0.87932	D	0	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	445	Q6ZWB6	KCTD8_HUMAN	K	445	ENSP00000353129:Q445K	ENSP00000353129:Q445K	Q	-	1	0	KCTD8	43871653	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.089000	0.94137	2.553000	0.86117	0.557000	0.71058	CAG		PASS	0.388	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			147	122	147	122	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55593614	55593614	+	Silent	SNP	T	T	A	rs121913511|rs121913510		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:55593614T>A	ENST00000288135.5	+	11	1777	c.1680T>A	c.(1678-1680)gtT>gtA	p.V560V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	560			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:9438854}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W557_E561del(17)|p.V560del(16)|p.K558_E562del(10)|p.V559_E561del(8)|p.V559_V560del(6)|p.V560E(6)|p.Q556_V560del(6)|p.K558_V560del(5)|p.V560_L576del(4)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.V560V(2)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.V559_E562del(1)|p.M552_T574>TESA(1)|p.K558_D572del(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.Q556_D572del(1)|p.Q556_E561del(1)|p.V559_P573>A(1)|p.K558_L576>NV(1)|p.Q556_E561>HH(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.K558_G565>R(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.E561del(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.K558_V560>M(1)|p.E554_E562del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGAAGGTTGTTGAGGAGATAA	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		143	Deletion - In frame(117)|Complex - deletion inframe(18)|Substitution - Missense(6)|Substitution - coding silent(2)	p.V560D(113)|p.V560del(44)|p.W557_E561del(36)|p.V560G(23)|p.V560_L576del(22)|p.V560E(18)|p.K558_E562del(16)|p.V559_E561del(15)|p.K558_V560del(13)|p.K558_V560>N(12)|p.V559_G565del(11)|p.W557_V560>C(11)|p.K558_G565>R(11)|p.Q556_V560del(10)|p.V559_V560del(9)|p.K558_D572del(9)|p.V559_T574del(6)|p.W557_Q575del(6)|p.Q556_V560>H(6)|p.K558_I563del(5)|p.Q556_D572del(5)|p.K558_V560>I(5)|p.W557_V560>F(4)|p.V555_P573del(4)|p.V555_I571del(4)|p.W557_V560del(4)|p.M552_D572del(4)|p.V555_V560del(4)|p.V560_I571del(3)|p.Q556_D572>H(3)|p.Y553_T574>S(3)|p.V560_E561del(3)|p.E554_D572>A(3)|p.Q556_L576del(3)|p.W557_E562del(3)|p.V555_D572del(3)|p.Q556_T574del(3)|p.K558_E561del(3)|p.Y553_E561>LK(2)|p.M552_E561>K(2)|p.V559_D572del(2)|p.W557_P573>S(2)|p.W557_T574del(2)|p.P551_V569del(2)|p.V560_Y578del(2)|p.V560A(2)|p.Y553_E561del(2)|p.Q556_N564>R(2)|p.V555_E562del(2)|p.V555_Q575del(2)|p.W557_D572del(2)|p.W557_N564del(2)|p.V559_E562del(2)|p.K558_N564del(2)|p.W557_I571del(2)|p.K558_Y570>N(2)|p.V559_N566>D(2)|p.Q556_N564>H(2)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.Q556_I563del(1)|p.W557_I563>FP(1)|p.M552_V560del(1)|p.K558_N564>R(1)|p.K558_E561>NP(1)|p.V559_P573>A(1)|p.K558_D572>N(1)|p.E554_N564>D(1)|p.V559_L576del(1)|p.P551_E561>Q(1)|p.Y553_P573del(1)|p.K550_V560>L(1)|p.V555_V560>H(1)|p.W557_T575>CP(1)|p.E554_Y570del(1)|p.E554_E561del(1)|p.Q556_N566>SNNLQLY(1)|p.E554_I571del(1)|p.V560_Y568del(1)|p.V555_V560>T(1)|p.V555_V560>V(1)|p.W557_E561>PS(1)|p.Q556_L576>H(1)|p.K558_G565>A(1)|p.Q556_P573del(1)|p.K558_L576>NV(1)|p.E554_E562del(1)|p.Q556_V560>TTF(1)|p.K558_V560>R(1)|p.W557_I563>T(1)|p.K558_T574>NRS(1)|p.V559_I571del(1)|p.E554_D572del(1)|p.W557_Y570del(1)|p.V560V(1)|p.P551_V569>L(1)|p.K558_P573del(1)|p.Q556_N564del(1)|p.E554_V560>K(1)|p.E554_V560>D(1)|p.V559_S590del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.Q556_V560>HNLQLY(1)|p.K558_L576del(1)|p.Y553_L576>NCLHLYSSQ(1)|p.K558_V560>M(1)|p.E561del(1)|p.V555_I563del(1)|p.M552_Y570del(1)|p.K558_P573>R(1)|p.V555_G565del(1)|p.V560_N566del(1)|p.K558_G565del(1)|p.Q556_V560>F(1)|p.M552_I563del(1)|p.Q556_E561del(1)|p.V560_D572del(1)|p.V555_N564del(1)|p.Q556_E561>HH(1)|p.K550_Y568del(1)|p.E554_N564del(1)|p.V559_V569del(1)|p.Q556_E561>P(1)	soft_tissue(140)|lung(1)|testis(1)|thymus(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1678-1680)GTT>GTA		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						81.0	83.0	82.0					4																	55593614		2203	4300	6503	SO:0001819	synonymous_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55593614T>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1680T>A	4.37:g.55593614T>A						KIT_uc010igs.2_Silent_p.V556V|KIT_uc010igt.1_Silent_p.V9V	p.V560V	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	11	1767	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		560		Missing (in GIST; somatic mutation).	Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.1680T>A	CCDS3496.1																																																																																				PASS	0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			24	122	24	122	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85750301	85750301	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:85750301G>C	ENST00000295888.4	-	9	1219	c.812C>G	c.(811-813)tCa>tGa	p.S271*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.S271*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	271					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.S271*(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGTCATCTGATTGCTGCAT	0.348																																						uc003hpd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(811-813)TCA>TGA		WD repeat and FYVE domain containing 3 isoform							81.0	85.0	84.0					4																	85750301		2203	4300	6503	SO:0001587	stop_gained	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85750301G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.812C>G	4.37:g.85750301G>C	ENSP00000295888:p.Ser271*					WDFY3_uc003hpf.2_Nonsense_Mutation_p.S271*	p.S271*	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	9	1220	-		Hepatocellular(203;0.114)	271					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	ENST00000295888.4	37	c.812C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	41	8.671455	0.98908	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	19.2069	0.93734	0.0:0.0:1.0:0.0	.	.	.	.	X	271	.	ENSP00000295888:S271X	S	-	2	0	WDFY3	85969325	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.704000	0.98716	2.547000	0.85894	0.655000	0.94253	TCA		PASS	0.348	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		63	98	63	98	---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88731824	88731824	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:88731824A>G	ENST00000226284.5	+	6	380	c.313A>G	c.(313-315)Acc>Gcc	p.T105A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	105	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.T105A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGCTGAGAATACCACACTTTC	0.413																																						uc003hqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)ACC>GCC		integrin-binding sialoprotein precursor							125.0	126.0	126.0					4																	88731824		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88731824A>G		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.313A>G	4.37:g.88731824A>G	ENSP00000226284:p.Thr105Ala						p.T105A	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	6	411	+		Hepatocellular(203;0.114)	105			Asp/Glu-rich (acidic).			Missense_Mutation	SNP	ENST00000226284.5	37	c.313A>G	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	A	9.600	1.128358	0.21041	.	.	ENSG00000029559	ENST00000226284	T	0.12147	2.71	5.23	-8.5	0.00927	.	0.973136	0.08474	N	0.940579	T	0.05686	0.0149	N	0.21583	0.68	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.41502	-0.9505	10	0.08599	T	0.76	.	5.9187	0.19070	0.2382:0.0:0.1497:0.6121	.	105	P21815	SIAL_HUMAN	A	105	ENSP00000226284:T105A	ENSP00000226284:T105A	T	+	1	0	IBSP	88950848	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.487000	0.06505	-1.607000	0.01589	0.482000	0.46254	ACC		PASS	0.413	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			28	150	28	150	---	---	---	---
HERC6	55008	broad.mit.edu	37	4	89363384	89363384	+	Splice_Site	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:89363384A>G	ENST00000264346.7	+	23	2901		c.e23-1		HERC6_ENST00000380265.5_Splice_Site	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6						hematopoietic progenitor cell differentiation (GO:0002244)|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.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ATTCCTTTCTAGTTTTCCTTA	0.323																																						uc011cdi.1																			2	Unknown(2)		lung(2)	lung(3)|ovary(1)|kidney(1)	5						c.e23-2		hect domain and RLD 6 isoform 1							39.0	35.0	36.0					4																	89363384		1818	4086	5904	SO:0001630	splice_region_variant	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89363384A>G	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2843-1A>G	4.37:g.89363384A>G						HERC6_uc011cdj.1_Splice_Site_p.F912_splice|HERC6_uc011cdk.1_Splice_Site|HERC6_uc011cdl.1_Splice_Site	p.F948_splice	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	23	3026	+		Hepatocellular(203;0.114)						B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Splice_Site	SNP	ENST00000264346.7	37	c.2843_splice	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543381	0.65198	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5507	0.61730	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HERC6	89582407	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	5.701000	0.68325	2.093000	0.63338	0.482000	0.46254	.		PASS	0.323	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		Intron	11	14	11	14	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89591092	89591092	+	Missense_Mutation	SNP	G	G	A	rs574246056	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:89591092G>A	ENST00000402738.1	+	15	1954	c.1715G>A	c.(1714-1716)aGg>aAg	p.R572K	HERC3_ENST00000543130.1_Missense_Mutation_p.R16K|HERC3_ENST00000264345.3_Missense_Mutation_p.R572K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	572					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R572K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TATCTACTGAGGGGAAGAAAG	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		17893	0.0		0.0	False		,,,				2504	0.002					uc003hrw.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(1714-1716)AGG>AAG		hect domain and RLD 3							111.0	113.0	112.0					4																	89591092		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89591092G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1715G>A	4.37:g.89591092G>A	ENSP00000385684:p.Arg572Lys					HERC3_uc011cdn.1_Missense_Mutation_p.R454K|HERC3_uc011cdo.1_Missense_Mutation_p.R16K	p.R572K	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	15	1881	+			572					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.1715G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	4.872	0.162127	0.09287	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130	T;T;T	0.38401	1.14;1.14;1.36	5.08	3.24	0.37175	.	0.330121	0.34932	N	0.003568	T	0.15176	0.0366	N	0.14661	0.345	0.29849	N	0.828593	B	0.02656	0.0	B	0.04013	0.001	T	0.27054	-1.0085	10	0.02654	T	1	.	6.031	0.19681	0.2252:0.1427:0.6321:0.0	.	572	Q15034	HERC3_HUMAN	K	572;572;16	ENSP00000385684:R572K;ENSP00000264345:R572K;ENSP00000441703:R16K	ENSP00000264345:R572K	R	+	2	0	HERC3	89810115	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	1.576000	0.36504	1.508000	0.48769	0.655000	0.94253	AGG		PASS	0.388	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		85	86	85	86	---	---	---	---
DAPP1	27071	broad.mit.edu	37	4	100774445	100774445	+	Silent	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:100774445G>C	ENST00000512369.1	+	4	497	c.429G>C	c.(427-429)cgG>cgC	p.R143R	DAPP1_ENST00000296414.7_Silent_p.R143R	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	143					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)	p.R143R(2)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		AATCTGTCCGGGTTCACACAG	0.448																																						uc003hvf.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(427-429)CGG>CGC		dual adaptor of phosphotyrosine and							85.0	82.0	83.0					4																	100774445		1925	4133	6058	SO:0001819	synonymous_variant	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100774445G>C	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.429G>C	4.37:g.100774445G>C						DAPP1_uc011cek.1_Intron|DAPP1_uc010ilh.2_Silent_p.R143R	p.R143R	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	4	519	+			143					Q8TCK5|Q9UHF2	Silent	SNP	ENST00000512369.1	37	c.429G>C	CCDS47112.1																																																																																				PASS	0.448	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			13	26	13	26	---	---	---	---
GSTCD	79807	broad.mit.edu	37	4	106647744	106647744	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:106647744C>A	ENST00000515279.1	+	4	1123	c.903C>A	c.(901-903)atC>atA	p.I301I	GSTCD_ENST00000394730.3_Silent_p.I214I|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Silent_p.I301I|GSTCD_ENST00000360505.5_Silent_p.I301I|GSTCD_ENST00000507281.1_Silent_p.I214I			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	301	GST C-terminal.					extracellular vesicular exosome (GO:0070062)		p.I214I(1)|p.I301I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGGTAATTATCAGCAGGAAAT	0.348																																						uc003hxz.3																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(901-903)ATC>ATA		glutathione S-transferase, C-terminal domain							21.0	20.0	20.0					4																	106647744		2201	4295	6496	SO:0001819	synonymous_variant	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106647744C>A	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.903C>A	4.37:g.106647744C>A						GSTCD_uc003hxx.2_Silent_p.I301I|GSTCD_uc003hxy.3_Silent_p.I214I|GSTCD_uc011cfb.1_5'UTR|GSTCD_uc010ils.1_Silent_p.I301I	p.I301I	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	4	975	+		Hepatocellular(203;0.217)	301			GST C-terminal.		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Silent	SNP	ENST00000515279.1	37	c.903C>A	CCDS43257.1																																																																																				PASS	0.348	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		5	12	5	12	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111398008	111398008	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:111398008G>C	ENST00000265162.5	+	1	780	c.438G>C	c.(436-438)gaG>gaC	p.E146D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	146					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E146D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GGCTCCCGGAGCTGAAGAGGC	0.627																																						uc003iab.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(436-438)GAG>GAC		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						72.0	84.0	80.0					4																	111398008		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398008G>C	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.438G>C	4.37:g.111398008G>C	ENSP00000265162:p.Glu146Asp						p.E146D	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	780	+		Hepatocellular(203;0.217)	146			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.438G>C	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	2.406	-0.336552	0.05278	.	.	ENSG00000138792	ENST00000265162	T	0.04194	3.68	5.62	4.72	0.59763	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.219260	0.06154	N	0.674791	T	0.05273	0.0140	L	0.28192	0.835	0.27904	N	0.938889	B	0.22003	0.063	B	0.26310	0.068	T	0.24083	-1.0170	10	0.32370	T	0.25	.	7.7416	0.28845	0.1416:0.1385:0.7199:0.0	.	146	Q07075	AMPE_HUMAN	D	146	ENSP00000265162:E146D	ENSP00000265162:E146D	E	+	3	2	ENPEP	111617457	0.973000	0.33851	0.736000	0.30914	0.009000	0.06853	1.810000	0.38932	2.648000	0.89879	0.561000	0.74099	GAG		PASS	0.627	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			36	205	36	205	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114028085	114028085	+	Intron	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:114028085G>T	ENST00000357077.4	+	1	137				ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTTTGCTTTGGTAATAAATC	0.338																																						hsa-mir-1243|MI0006373																			0					0															72.0	72.0	72.0					4																	114028085		1568	3582	5150	SO:0001627	intron_variant	100302188							g.chr4:114028085G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.84+57117G>T	4.37:g.114028085G>T						ANK2_uc003ibd.3_Intron|ANK2_uc003ibe.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Intron										+								Q01485|Q08AC7|Q08AC8|Q7Z3L5	RNA	SNP	ENST00000357077.4	37	c.67G>T	CCDS3702.1																																																																																				PASS	0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		16	62	16	62	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114279820	114279820	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:114279820C>T	ENST00000357077.4	+	38	10099	c.10046C>T	c.(10045-10047)cCt>cTt	p.P3349L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3316L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3349					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P3349L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAAACTCCCTGTCAAAGTA	0.473																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10045-10047)CCT>CTT		ankyrin 2 isoform 1							121.0	123.0	122.0					4																	114279820		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114279820C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10046C>T	4.37:g.114279820C>T	ENSP00000349588:p.Pro3349Leu					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P651L|ANK2_uc011cgb.1_Missense_Mutation_p.P3364L	p.P3349L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10146	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3316					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10046C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165474	0.57476	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	D;D;D	0.99023	-1.88;-1.9;-5.34	5.49	4.64	0.57946	.	0.000000	0.53938	D	0.000042	D	0.99111	0.9694	M	0.75777	2.31	0.80722	D	1	P;D	0.89917	0.822;1.0	B;D	0.91635	0.225;0.999	D	0.99038	1.0823	10	0.87932	D	0	.	14.685	0.69042	0.0:0.9289:0.0:0.0711	.	3316;3349	Q01484;Q01484-4	ANK2_HUMAN;.	L	3349;3316;359	ENSP00000349588:P3349L;ENSP00000264366:P3316L;ENSP00000422498:P359L	ENSP00000264366:P3316L	P	+	2	0	ANK2	114499269	1.000000	0.71417	0.962000	0.40283	0.592000	0.36648	5.731000	0.68554	2.572000	0.86782	0.650000	0.86243	CCT		PASS	0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		44	159	44	159	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115749013	115749013	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:115749013G>T	ENST00000264363.2	-	14	3256	c.2578C>A	c.(2578-2580)Ctg>Atg	p.L860M		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	860	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.L860M(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CACGATGGCAGAGGCTGTCCC	0.403																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2578-2580)CTG>ATG		heparan sulfate N-deacetylase/N-sulfotransferase							110.0	107.0	108.0					4																	115749013		2203	4299	6502	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115749013G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2578C>A	4.37:g.115749013G>T	ENSP00000264363:p.Leu860Met					NDST4_uc010imw.2_RNA	p.L860M	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	14	3257	-		Ovarian(17;0.156)	860			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2578C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465888	0.63513	.	.	ENSG00000138653	ENST00000264363	T	0.57107	0.42	5.22	3.48	0.39840	.	0.000000	0.64402	D	0.000004	T	0.53286	0.1787	M	0.79123	2.44	0.43238	D	0.995141	B	0.27853	0.191	B	0.35899	0.213	T	0.53479	-0.8433	10	0.66056	D	0.02	.	4.9161	0.13847	0.2263:0.0:0.6229:0.1509	.	860	Q9H3R1	NDST4_HUMAN	M	860	ENSP00000264363:L860M	ENSP00000264363:L860M	L	-	1	2	NDST4	115968462	0.998000	0.40836	0.758000	0.31321	0.973000	0.67179	2.721000	0.47260	0.580000	0.29522	0.544000	0.68410	CTG		PASS	0.403	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		25	82	25	82	---	---	---	---
CCNA2	890	broad.mit.edu	37	4	122744726	122744726	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:122744726C>G	ENST00000274026.5	-	1	361	c.58G>C	c.(58-60)Gca>Cca	p.A20P		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	20					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A20P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TGCTGCAATGCTAGCAGCGCC	0.697																																						uc003iec.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(58-60)GCA>CCA		cyclin A							10.0	15.0	13.0					4																	122744726		2157	4276	6433	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122744726C>G		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.58G>C	4.37:g.122744726C>G	ENSP00000274026:p.Ala20Pro						p.A20P	NM_001237	NP_001228	P20248	CCNA2_HUMAN			1	363	-			20					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.58G>C	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166824	0.21621	.	.	ENSG00000145386	ENST00000274026	T	0.15017	2.46	4.92	-4.18	0.03846	.	1.314370	0.04892	N	0.449807	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.41790	T	0.15	.	1.6438	0.02758	0.1511:0.3849:0.2021:0.2619	.	20	P20248	CCNA2_HUMAN	P	20	ENSP00000274026:A20P	ENSP00000274026:A20P	A	-	1	0	CCNA2	122964176	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.293000	0.08320	-0.338000	0.08413	-0.302000	0.09304	GCA		PASS	0.697	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		4	17	4	17	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159573058	159573058	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:159573058G>T	ENST00000307765.5	+	18	2376	c.2125G>T	c.(2125-2127)Ggt>Tgt	p.G709C	RXFP1_ENST00000448688.2_Missense_Mutation_p.G604C|RXFP1_ENST00000460056.2_Missense_Mutation_p.G628C|RXFP1_ENST00000343542.5_Missense_Mutation_p.G661C|RXFP1_ENST00000470033.1_Missense_Mutation_p.G676C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	709					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.G709C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACAGCAAAGGTCAGAAAAC	0.418																																						uc003ipz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2125-2127)GGT>TGT		relaxin/insulin-like family peptide receptor 1							121.0	113.0	115.0					4																	159573058		1903	4111	6014	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159573058G>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.2125G>T	4.37:g.159573058G>T	ENSP00000303248:p.Gly709Cys					RXFP1_uc011cja.1_Missense_Mutation_p.G604C|RXFP1_uc010iqo.2_Missense_Mutation_p.G661C|RXFP1_uc011cjb.1_Missense_Mutation_p.G607C|RXFP1_uc010iqk.2_Missense_Mutation_p.G577C|RXFP1_uc011cjc.1_Missense_Mutation_p.G628C|RXFP1_uc011cjd.1_Missense_Mutation_p.G628C|RXFP1_uc010iql.2_Missense_Mutation_p.G553C|RXFP1_uc011cje.1_Missense_Mutation_p.G736C|RXFP1_uc010iqm.2_Missense_Mutation_p.G676C|RXFP1_uc011cjf.1_Missense_Mutation_p.G578C|RXFP1_uc010iqn.2_Missense_Mutation_p.G654C	p.G709C	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	18	2207	+	all_hematologic(180;0.24)	Renal(120;0.0854)	709			Cytoplasmic (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.2125G>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232792	0.39498	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.70869	-0.37;-0.47;-0.33;-0.52;-0.47	5.75	3.11	0.35812	.	0.407867	0.26279	N	0.025297	T	0.65770	0.2723	L	0.51422	1.61	0.24866	N	0.992319	P;P;P;P;P;P;P;P	0.50617	0.896;0.883;0.896;0.616;0.937;0.88;0.896;0.482	B;B;B;B;P;B;B;B	0.45913	0.302;0.417;0.395;0.393;0.497;0.376;0.321;0.28	T	0.60005	-0.7347	10	0.66056	D	0.02	.	8.488	0.33082	0.2892:0.0:0.7108:0.0	.	720;736;604;661;676;628;579;709	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	C	628;709;604;661;676;579	ENSP00000423306:G628C;ENSP00000303248:G709C;ENSP00000414885:G604C;ENSP00000345889:G661C;ENSP00000420712:G676C	ENSP00000303248:G709C	G	+	1	0	RXFP1	159792508	0.580000	0.26733	0.981000	0.43875	0.525000	0.34531	0.400000	0.20932	0.779000	0.33543	0.655000	0.94253	GGT		PASS	0.418	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		22	138	22	138	---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164050062	164050062	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:164050062C>T	ENST00000274054.2	-	8	1665	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	491					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G491E(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATAGTAAGGTCCAAAATGAGA	0.423																																						uc003iqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1471-1473)GGA>GAA		nuclear assembly factor 1 homolog isoform a							24.0	26.0	25.0					4																	164050062		2185	4256	6441	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050062C>T		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1472G>A	4.37:g.164050062C>T	ENSP00000274054:p.Gly491Glu					NAF1_uc010iqw.1_Intron	p.G491E	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1666	-	all_hematologic(180;0.166)	Prostate(90;0.109)	491					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1472G>A	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205691	0.58234	.	.	ENSG00000145414	ENST00000274054	T	0.33438	1.41	4.04	3.19	0.36642	.	0.570817	0.16724	N	0.202140	T	0.19005	0.0456	L	0.29908	0.895	0.26488	N	0.974999	D	0.54047	0.964	B	0.42112	0.376	T	0.05053	-1.0909	10	0.14252	T	0.57	-0.689	7.7364	0.28817	0.0:0.8875:0.0:0.1125	.	491	Q96HR8	NAF1_HUMAN	E	491	ENSP00000274054:G491E	ENSP00000274054:G491E	G	-	2	0	NAF1	164269512	0.848000	0.29623	0.964000	0.40570	0.988000	0.76386	1.337000	0.33862	1.278000	0.44430	0.655000	0.94253	GGA		PASS	0.423	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		8	45	8	45	---	---	---	---
CFAP97	57587	broad.mit.edu	37	4	186085284	186085284	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:186085284C>A	ENST00000458385.2	-	4	1489	c.1370G>T	c.(1369-1371)cGt>cTt	p.R457L		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		457								p.R457L(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TTGTTCTGAACGTTTCATACC	0.403																																						uc003ixf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1369-1371)CGT>CTT		hypothetical protein LOC57587							155.0	146.0	149.0					4																	186085284		1908	4128	6036	SO:0001583	missense	57587							g.chr4:186085284C>A																												ENST00000458385.2:c.1370G>T	4.37:g.186085284C>A	ENSP00000409964:p.Arg457Leu						p.R457L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	4	1517	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	457					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.1370G>T	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773984	0.90108	.	.	ENSG00000164323	ENST00000458385	T	0.51574	0.7	5.48	5.48	0.80851	.	.	.	.	.	T	0.59197	0.2176	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61941	-0.6959	9	0.87932	D	0	-3.5096	17.4901	0.87701	0.0:1.0:0.0:0.0	.	457	Q9P2B7	K1430_HUMAN	L	457	ENSP00000409964:R457L	ENSP00000409964:R457L	R	-	2	0	KIAA1430	186322278	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.277000	0.65586	2.724000	0.93272	0.655000	0.94253	CGT		PASS	0.403	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			24	74	24	74	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924142	188924142	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr4:188924142C>G	ENST00000326866.4	+	4	589	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	ZFP42_ENST00000509524.1_Missense_Mutation_p.Q61E	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	61					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q61E(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCCTGGCCCTCAGGCTCTCGG	0.522																																						uc003izg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(181-183)CAG>GAG		zinc finger protein 42							109.0	98.0	102.0					4																	188924142		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924142C>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.181C>G	4.37:g.188924142C>G	ENSP00000317686:p.Gln61Glu					ZFP42_uc003izh.1_Missense_Mutation_p.Q61E|ZFP42_uc003izi.1_Missense_Mutation_p.Q61E	p.Q61E	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	426	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	61					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.181C>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.724764	0.00694	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.58358	0.34;0.34	4.03	1.28	0.21552	.	0.564719	0.16280	N	0.221385	T	0.28433	0.0703	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24693	-1.0153	10	0.02654	T	1	.	3.0468	0.06157	0.173:0.3928:0.337:0.0972	.	61	Q96MM3	ZFP42_HUMAN	E	61	ENSP00000317686:Q61E;ENSP00000424662:Q61E	ENSP00000317686:Q61E	Q	+	1	0	ZFP42	189161136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.386000	0.20702	0.248000	0.21435	-0.175000	0.13238	CAG		PASS	0.522	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		3	127	3	127	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5462573	5462573	+	Silent	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:5462573A>G	ENST00000296564.7	+	13	3348	c.3126A>G	c.(3124-3126)ccA>ccG	p.P1042P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1042					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.P1042P(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCAGCACACCACAAAATGCTA	0.468																																						uc003jdm.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(3124-3126)CCA>CCG		hypothetical protein LOC23379							130.0	129.0	129.0					5																	5462573		1930	4137	6067	SO:0001819	synonymous_variant	23379							g.chr5:5462573A>G																												ENST00000296564.7:c.3126A>G	5.37:g.5462573A>G							p.P1042P	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	3348	+			1042					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.3126A>G	CCDS47187.1																																																																																				PASS	0.468	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			89	241	89	241	---	---	---	---
FASTKD3	79072	broad.mit.edu	37	5	7868063	7868063	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:7868063A>G	ENST00000264669.5	-	2	270	c.134T>C	c.(133-135)tTg>tCg	p.L45S	MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	45					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.L45S(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCGTGAACACAACCAAGGGCA	0.423																																						uc003jeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(133-135)TTG>TCG		FAST kinase domains 3							101.0	107.0	105.0					5																	7868063		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7868063A>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.134T>C	5.37:g.7868063A>G	ENSP00000264669:p.Leu45Ser					FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.L45S	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	271	-			45					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.134T>C	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631826	0.29068	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.26660	1.72;1.72;1.72	4.79	-0.321	0.12717	.	0.665171	0.14269	N	0.330263	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.24764	-1.0151	10	0.27785	T	0.31	-3.0935	2.0355	0.03538	0.5763:0.1332:0.1609:0.1296	.	45	Q14CZ7	FAKD3_HUMAN	S	45;45;28	ENSP00000264669:L45S;ENSP00000426008:L45S;ENSP00000422443:L28S	ENSP00000264669:L45S	L	-	2	0	FASTKD3	7921063	0.000000	0.05858	0.006000	0.13384	0.075000	0.17131	-0.251000	0.08818	0.350000	0.24002	0.533000	0.62120	TTG		PASS	0.423	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		27	169	27	169	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10390501	10390501	+	Silent	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:10390501T>C	ENST00000274140.5	+	6	597	c.465T>C	c.(463-465)tgT>tgC	p.C155C	MARCH6_ENST00000449913.2_Silent_p.C107C|MARCH6_ENST00000503788.1_Silent_p.C50C	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	155					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C155C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GCACACTGTGTGCATTCATCA	0.458																																						uc003jet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(463-465)TGT>TGC		membrane-associated ring finger (C3HC4) 6							176.0	172.0	173.0					5																	10390501		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10390501T>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.465T>C	5.37:g.10390501T>C						MARCH6_uc011cmu.1_Silent_p.C107C|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Silent_p.C50C	p.C155C	NM_005885	NP_005876	O60337	MARH6_HUMAN			6	648	+			155			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.465T>C	CCDS34135.1																																																																																				PASS	0.458	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		35	336	35	336	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535829	24535829	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:24535829G>C	ENST00000264463.4	-	4	1136	c.629C>G	c.(628-630)tCt>tGt	p.S210C		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S210C(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)		AGGCTCCACAGAGAAATAGGG	0.438										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(628-630)TCT>TGT		cadherin 10, type 2 preproprotein							119.0	110.0	113.0					5																	24535829		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535829G>C	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.629C>G	5.37:g.24535829G>C	ENSP00000264463:p.Ser210Cys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.S210C	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	961	-			210			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.629C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240235	0.79912	.	.	ENSG00000040731	ENST00000264463	T	0.03181	4.02	6.17	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	M	0.74546	2.27	0.51767	D	0.999938	D	0.89917	1.0	D	0.97110	1.0	T	0.00466	-1.1722	10	0.87932	D	0	.	16.8241	0.85926	0.0:0.1284:0.8716:0.0	.	210	Q9Y6N8	CAD10_HUMAN	C	210	ENSP00000264463:S210C	ENSP00000264463:S210C	S	-	2	0	CDH10	24571586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.027000	0.88791	1.611000	0.50210	0.655000	0.94253	TCT		PASS	0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		15	132	15	132	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32390503	32390503	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:32390503C>G	ENST00000265069.8	-	12	2122	c.2020G>C	c.(2020-2022)Gaa>Caa	p.E674Q		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	674					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E674Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TGATGTTGTTCTTCCTCCATT	0.478																																						uc003jhr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2020-2022)GAA>CAA		zinc finger RNA binding protein							150.0	144.0	146.0					5																	32390503		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32390503C>G	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2020G>C	5.37:g.32390503C>G	ENSP00000265069:p.Glu674Gln					ZFR_uc011cny.1_5'Flank	p.E674Q	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	12	2100	-			674					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2020G>C	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884412	0.72410	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.06528	3.29	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	M	0.76574	2.34	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.00553	-1.1674	10	0.62326	D	0.03	.	18.907	0.92466	0.0:1.0:0.0:0.0	.	674	Q96KR1	ZFR_HUMAN	Q	674;652	ENSP00000265069:E674Q	ENSP00000265069:E674Q	E	-	1	0	ZFR	32426260	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.248000	0.78268	2.463000	0.83235	0.561000	0.74099	GAA		PASS	0.478	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			50	157	50	157	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35954348	35954348	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:35954348C>T	ENST00000274278.3	-	7	1885	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	510						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.V510M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCTGGCCACCACACCCAGC	0.582																																						uc003jjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1528-1530)GTG>ATG		UDP glycosyltransferase 3 family, polypeptide A1							81.0	66.0	71.0					5																	35954348		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954348C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1528G>A	5.37:g.35954348C>T	ENSP00000274278:p.Val510Met					UGT3A1_uc003jjw.1_RNA	p.V510M	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1685	-	all_lung(31;0.000197)		510			Cytoplasmic (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1528G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	9.608	1.130537	0.21041	.	.	ENSG00000145626	ENST00000274278	T	0.62105	0.05	3.9	-0.321	0.12717	.	1.082580	0.07319	N	0.877206	T	0.53722	0.1814	M	0.67953	2.075	0.09310	N	1	P	0.45634	0.863	B	0.40982	0.345	T	0.47535	-0.9110	10	0.48119	T	0.1	.	0.3487	0.00345	0.294:0.2915:0.1362:0.2783	.	510	Q6NUS8	UD3A1_HUMAN	M	510	ENSP00000274278:V510M	ENSP00000274278:V510M	V	-	1	0	UGT3A1	35990105	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.199000	0.17237	-0.211000	0.10124	0.411000	0.27672	GTG		PASS	0.582	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		21	47	21	47	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38496550	38496550	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:38496550C>T	ENST00000263409.4	-	13	1981	c.1819G>A	c.(1819-1821)Gta>Ata	p.V607I	LIFR_ENST00000453190.2_Missense_Mutation_p.V607I|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	607	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.V607I(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTAGCCACTACGCTGATGATG	0.413			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1819-1821)GTA>ATA		leukemia inhibitory factor receptor precursor							224.0	194.0	205.0					5																	38496550		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38496550C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1819G>A	5.37:g.38496550C>T	ENSP00000263409:p.Val607Ile					LIFR_uc003jli.2_Missense_Mutation_p.V607I	p.V607I	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			13	2151	-	all_lung(31;0.00021)		607			Extracellular (Potential).|Fibronectin type-III 4.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1819G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654905	0.67472	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.63096	-0.02;-0.02	5.73	5.73	0.89815	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	L	0.52573	1.65	0.47994	D	0.999563	D	0.89917	1.0	D	0.76575	0.988	T	0.72171	-0.4371	10	0.38643	T	0.18	-15.632	18.8838	0.92367	0.0:1.0:0.0:0.0	.	607	P42702	LIFR_HUMAN	I	607	ENSP00000263409:V607I;ENSP00000398368:V607I	ENSP00000263409:V607I	V	-	1	0	LIFR	38532307	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.155000	0.64900	2.708000	0.92522	0.563000	0.77884	GTA		PASS	0.413	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		64	241	64	241	---	---	---	---
C7	730	broad.mit.edu	37	5	40945391	40945391	+	Missense_Mutation	SNP	G	G	T	rs369349760		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:40945391G>T	ENST00000313164.9	+	7	1018	c.659G>T	c.(658-660)cGg>cTg	p.R220L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	220	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		R -> Q (in C7D). {ECO:0000269|PubMed:9856499}.		cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|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.R220L(1)					Ovarian(839;0.0112)				TCATCTAGTCGGAAGCGCTCC	0.313																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM980284	C7	M		c.(658-660)CGG>CTG		complement component 7 precursor							148.0	137.0	140.0					5																	40945391		1858	4107	5965	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40945391G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.659G>T	5.37:g.40945391G>T	ENSP00000322061:p.Arg220Leu					C7_uc011cpn.1_Intron	p.R220L	NM_000587	NP_000578	P10643	CO7_HUMAN			7	773	+		Ovarian(839;0.0112)	220		R -> Q (in C7D).	MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.659G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	8.478	0.859021	0.17178	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	T	0.63744	-0.06	4.35	-8.12	0.01078	Membrane attack complex component/perforin (MACPF) domain (1);	1.403040	0.04456	N	0.373502	T	0.43456	0.1248	N	0.25647	0.755	0.09310	N	1	B	0.23650	0.089	B	0.17979	0.02	T	0.30416	-0.9979	10	0.15499	T	0.54	0.7163	12.1467	0.54028	0.737:0.1076:0.1555:0.0	.	220	P10643	CO7_HUMAN	L	220	ENSP00000322061:R220L	ENSP00000322061:R220L	R	+	2	0	C7	40981148	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.711000	0.01886	-2.253000	0.00698	-0.966000	0.02617	CGG		PASS	0.313	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			13	38	13	38	---	---	---	---
C6	729	broad.mit.edu	37	5	41153960	41153960	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:41153960C>G	ENST00000263413.3	-	15	2506	c.2242G>C	c.(2242-2244)Ggg>Cgg	p.G748R	C6_ENST00000337836.5_Missense_Mutation_p.G748R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	748	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.G748R(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)				CAGGAATTCCCCTGGCATGTG	0.468																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2242-2244)GGG>CGG		complement component 6 precursor							109.0	94.0	99.0					5																	41153960		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41153960C>G	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.2242G>C	5.37:g.41153960C>G	ENSP00000263413:p.Gly748Arg					C6_uc003jml.1_Missense_Mutation_p.G748R	p.G748R	NM_000065	NP_000056	P13671	CO6_HUMAN			15	2452	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	748			C5b-binding domain.|Sushi 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2242G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	0.767	-0.767066	0.02974	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.73897	-0.79;-0.79	5.61	4.63	0.57726	Complement control module (2);Sushi/SCR/CCP (3);	0.952731	0.08824	N	0.888347	T	0.57755	0.2075	L	0.31065	0.9	0.09310	N	0.999997	B	0.06786	0.001	B	0.11329	0.006	T	0.48514	-0.9029	10	0.12103	T	0.63	-2.9572	3.6611	0.08238	0.0:0.6549:0.0:0.3451	.	748	P13671	CO6_HUMAN	R	748	ENSP00000338861:G748R;ENSP00000263413:G748R	ENSP00000263413:G748R	G	-	1	0	C6	41189717	0.003000	0.15002	0.069000	0.20011	0.101000	0.19017	1.605000	0.36815	2.646000	0.89796	0.555000	0.69702	GGG		PASS	0.468	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			43	134	43	134	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52340858	52340858	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:52340858A>T	ENST00000296585.5	+	4	466	c.323A>T	c.(322-324)gAg>gTg	p.E108V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	108					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.E108V(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AATGTTACTGAGATGAAAACC	0.348																																						uc003joy.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(322-324)GAG>GTG		integrin alpha 2 precursor							103.0	96.0	98.0					5																	52340858		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52340858A>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.323A>T	5.37:g.52340858A>T	ENSP00000296585:p.Glu108Val					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E32V|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.E108V	NM_002203	NP_002194	P17301	ITA2_HUMAN			4	466	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	108			Extracellular (Potential).|FG-GAP 2.		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.323A>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561040	0.86335	.	.	ENSG00000164171	ENST00000296585	D	0.93763	-3.28	5.54	5.54	0.83059	.	0.163853	0.56097	D	0.000034	D	0.94918	0.8357	L	0.55103	1.725	0.45852	D	0.998713	D;D	0.67145	0.996;0.991	D;P	0.66497	0.944;0.764	D	0.93585	0.6916	10	0.27785	T	0.31	.	14.9509	0.71074	1.0:0.0:0.0:0.0	.	108;108	E7ESP4;P17301	.;ITA2_HUMAN	V	108	ENSP00000296585:E108V	ENSP00000296585:E108V	E	+	2	0	ITGA2	52376615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.434000	0.73408	2.243000	0.73865	0.533000	0.62120	GAG		PASS	0.348	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		25	72	25	72	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90055301	90055301	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:90055301A>T	ENST00000405460.2	+	58	12112	c.12016A>T	c.(12016-12018)Atc>Ttc	p.I4006F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4006	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I4006F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTTCCTTGATCAGTGTTGC	0.373																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12016-12018)ATC>TTC		G protein-coupled receptor 98 precursor							180.0	174.0	176.0					5																	90055301		2061	4215	6276	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90055301A>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12016A>T	5.37:g.90055301A>T	ENSP00000384582:p.Ile4006Phe					GPR98_uc003kjt.2_Missense_Mutation_p.I1712F|GPR98_uc003kjv.2_Missense_Mutation_p.I1606F	p.I4006F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	58	12112	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4006			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12016A>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.401|6.401	0.442196|0.442196	0.12164|0.12164	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27104|.	1.69|.	4.99|4.99	-4.36|-4.36	0.03645|0.03645	Na-Ca exchanger/integrin-beta4 (1);|.	0.824626|.	0.11329|.	N|.	0.575182|.	T|.	0.16385|.	0.0394|.	N|N	0.16602|0.16602	0.42|0.42	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.37594|.	0.601;0.003|.	B;B|.	0.40410|.	0.328;0.008|.	T|.	0.27571|.	-1.0070|.	10|.	0.44086|.	T|.	0.13|.	.|.	2.9042|2.9042	0.05715|0.05715	0.3443:0.205:0.3501:0.1005|0.3443:0.205:0.3501:0.1005	.|.	4006;4006|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	F|C	4006|1571	ENSP00000384582:I4006F|.	ENSP00000296619:I4006F|.	I|X	+|+	1|3	0|0	GPR98|GPR98	90091057|90091057	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.122000|0.122000	0.20287|0.20287	0.453000|0.453000	0.21811|0.21811	-0.518000|-0.518000	0.06452|0.06452	-1.252000|-1.252000	0.01501|0.01501	ATC|TGA		PASS	0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	19	4	19	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129019847	129019847	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:129019847A>T	ENST00000274487.4	+	18	2826	c.2681A>T	c.(2680-2682)cAc>cTc	p.H894L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	894	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H894L(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATGGTCTTCACTATGAATAC	0.438																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(2680-2682)CAC>CTC		ADAM metallopeptidase with thrombospondin type 1							148.0	142.0	144.0					5																	129019847		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129019847A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2681A>T	5.37:g.129019847A>T	ENSP00000274487:p.His894Leu					ADAMTS19_uc010jdh.1_RNA	p.H894L	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	18	2681	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	894			Spacer.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2681A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155734	0.57259	.	.	ENSG00000145808	ENST00000274487	T	0.51817	0.69	4.42	4.42	0.53409	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	L	0.58669	1.825	0.58432	D	0.999995	D	0.60160	0.987	P	0.60541	0.876	T	0.60637	-0.7224	9	.	.	.	.	14.7144	0.69257	1.0:0.0:0.0:0.0	.	894	Q8TE59	ATS19_HUMAN	L	894	ENSP00000274487:H894L	.	H	+	2	0	ADAMTS19	129047746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.855000	0.86950	2.221000	0.72209	0.528000	0.53228	CAC		PASS	0.438	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		24	140	24	140	---	---	---	---
P4HA2	8974	broad.mit.edu	37	5	131531134	131531134	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:131531134C>G	ENST00000401867.1	-	14	1979	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000379100.2_Missense_Mutation_p.D469H|P4HA2_ENST00000166534.4_Missense_Mutation_p.D471H|P4HA2_ENST00000379104.2_Missense_Mutation_p.D471H|P4HA2_ENST00000360568.3_Missense_Mutation_p.D469H|P4HA2_ENST00000379086.1_Missense_Mutation_p.D469H			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	471	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.D471H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GCCCCCAGATCAGGGAAGACG	0.493																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1411-1413)GAT>CAT		prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)						122.0	109.0	113.0					5																	131531134		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131531134C>G	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1411G>C	5.37:g.131531134C>G	ENSP00000384999:p.Asp471His					P4HA2_uc003kwg.2_Missense_Mutation_p.D469H|P4HA2_uc003kwi.2_Missense_Mutation_p.D469H|P4HA2_uc003kwk.2_Missense_Mutation_p.D469H|P4HA2_uc003kwl.2_Missense_Mutation_p.D471H|P4HA2_uc003kwj.2_Missense_Mutation_p.D469H	p.D471H	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1975	-		all_cancers(142;0.103)|Breast(839;0.198)	471			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.1411G>C	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719565	0.68844	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.71	5.71	0.89125	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	N	0.16656	0.425	0.80722	D	1	P;P	0.36733	0.567;0.511	B;B	0.41764	0.366;0.18	T	0.69781	-0.5052	10	0.35671	T	0.21	-3.697	19.9403	0.97159	0.0:1.0:0.0:0.0	.	471;469	O15460;O15460-2	P4HA2_HUMAN;.	H	471;469;471;469;471;469	ENSP00000384999:D471H;ENSP00000368379:D469H;ENSP00000166534:D471H;ENSP00000353772:D469H;ENSP00000368398:D471H;ENSP00000368394:D469H	ENSP00000166534:D471H	D	-	1	0	P4HA2	131559033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.295000	0.78780	2.712000	0.92718	0.650000	0.86243	GAT		PASS	0.493	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		8	75	8	75	---	---	---	---
SEPT8	23176	broad.mit.edu	37	5	132096546	132096546	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:132096546C>A	ENST00000378719.2	-	9	1471	c.1234G>T	c.(1234-1236)Gcc>Tcc	p.A412S	SEPT8_ENST00000458488.2_Missense_Mutation_p.A412S|SEPT8_ENST00000448933.1_Missense_Mutation_p.A352S|SEPT8_ENST00000378699.2_Missense_Mutation_p.A352S|SEPT8_ENST00000378701.1_Missense_Mutation_p.A410S|SEPT8_ENST00000378721.4_Missense_Mutation_p.A410S|SEPT8_ENST00000481030.1_5'UTR|SEPT8_ENST00000378706.1_Missense_Mutation_p.A412S|SEPT8_ENST00000296873.7_Missense_Mutation_p.A412S	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	412					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.A412S(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGTGCAAGGCCTGCGACTGC	0.647																																						uc003kxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1234-1236)GCC>TCC		septin 8 isoform a							75.0	84.0	81.0					5																	132096546		2105	4217	6322	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132096546C>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.1234G>T	5.37:g.132096546C>A	ENSP00000367991:p.Ala412Ser					SEPT8_uc003kxs.1_Missense_Mutation_p.A412S|SEPT8_uc003kxu.2_Missense_Mutation_p.A412S|SEPT8_uc011cxi.1_Missense_Mutation_p.A410S|SEPT8_uc003kxv.2_Missense_Mutation_p.A410S|SEPT8_uc003kxt.2_Missense_Mutation_p.A352S	p.A412S	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1472	-		all_cancers(142;0.0751)|Breast(839;0.198)	412			Potential.		A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.1234G>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	9.058	0.993883	0.19043	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.7	4.78	0.61160	.	0.474581	0.22708	N	0.056614	T	0.61565	0.2357	N	0.14661	0.345	0.32810	D	0.501365	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.10450	0.003;0.005;0.004;0.005	T	0.56086	-0.8037	10	0.02654	T	1	.	12.0014	0.53232	0.3358:0.6642:0.0:0.0	.	410;410;412;412	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	S	412;410;412;352;412;352;410;412	ENSP00000367991:A412S;ENSP00000367993:A410S;ENSP00000296873:A412S;ENSP00000399840:A352S;ENSP00000367978:A412S;ENSP00000367971:A352S;ENSP00000367973:A410S;ENSP00000394766:A412S	ENSP00000296873:A412S	A	-	1	0	SEPT8	132124445	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.306000	0.51881	2.683000	0.91414	0.655000	0.94253	GCC		PASS	0.647	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		10	172	10	172	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558302	140558302	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:140558302C>A	ENST00000239444.2	+	1	932	c.687C>A	c.(685-687)gtC>gtA	p.V229V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	229	Cadherin 2. {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.V229V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTCAGGTCTACATTGAAG	0.512																																						uc011dai.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)	4						c.(685-687)GTC>GTA		protocadherin beta 8 precursor							154.0	193.0	179.0					5																	140558302		2203	4291	6494	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558302C>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.687C>A	5.37:g.140558302C>A						PCDHB16_uc003liv.2_5'Flank	p.V229V	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	873	+			229			Cadherin 2.|Extracellular (Potential).		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.687C>A	CCDS4250.1																																																																																				PASS	0.512	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		19	305	19	305	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590088	140590088	+	Missense_Mutation	SNP	G	G	A	rs532396499		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:140590088G>A	ENST00000239450.2	+	1	1798	c.1609G>A	c.(1609-1611)Ggc>Agc	p.G537S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.G200S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G537S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACCACGGCTCCCCGGC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.001	False		,,,				2504	0.0					uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1609-1611)GGC>AGC		protocadherin beta 12 precursor							53.0	60.0	58.0					5																	140590088		2203	4299	6502	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590088G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1609G>A	5.37:g.140590088G>A	ENSP00000239450:p.Gly537Ser					PCDHB12_uc011dak.1_Missense_Mutation_p.G200S	p.G537S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1798	+			537			Extracellular (Potential).|Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1609G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600706	0.66332	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01647	4.71;4.71	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.15869	0.0382	H	0.97564	4.03	0.45621	D	0.998557	D	0.69078	0.997	P	0.61722	0.893	T	0.38650	-0.9651	9	0.87932	D	0	.	14.8279	0.70128	0.0:0.0:1.0:0.0	.	537	Q9Y5F1	PCDBC_HUMAN	S	200;537;157	ENSP00000440199:G200S;ENSP00000239450:G537S	ENSP00000239450:G537S	G	+	1	0	PCDHB12	140570272	1.000000	0.71417	0.029000	0.17559	0.388000	0.30384	7.859000	0.86982	1.631000	0.50456	0.485000	0.47835	GGC		PASS	0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		22	60	22	60	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724442	140724442	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:140724442T>C	ENST00000253812.6	+	1	842	c.842T>C	c.(841-843)cTa>cCa	p.L281P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	281	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.L281P(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTATATTCTAGATAAAATG	0.448																																						uc003ljm.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(841-843)CTA>CCA		protocadherin gamma subfamily A, 3 isoform 1							38.0	39.0	39.0					5																	140724442		1912	4145	6057	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724442T>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.842T>C	5.37:g.140724442T>C	ENSP00000253812:p.Leu281Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L41P|PCDHGA3_uc011dap.1_Missense_Mutation_p.L281P	p.L281P	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	842	+			281			Cadherin 3.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.842T>C	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323042	0.24080	.	.	ENSG00000254245	ENST00000253812	T	0.01963	4.53	5.31	5.31	0.75309	Cadherin (4);Cadherin-like (1);	0.335001	0.16380	U	0.216950	T	0.08403	0.0209	M	0.89658	3.05	0.18873	N	0.999989	B;B	0.20459	0.036;0.045	B;B	0.27076	0.067;0.076	T	0.03514	-1.1029	10	0.87932	D	0	.	15.2298	0.73378	0.0:0.0:0.0:1.0	.	281;281	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	P	281	ENSP00000253812:L281P	ENSP00000253812:L281P	L	+	2	0	PCDHGA3	140704626	0.246000	0.23909	0.972000	0.41901	0.902000	0.53008	3.383000	0.52471	2.143000	0.66587	0.533000	0.62120	CTA		PASS	0.448	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		4	53	4	53	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140734863	140734863	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:140734863C>A	ENST00000571252.1	+	1	96	c.96C>A	c.(94-96)ctC>ctA	p.L32L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	32	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGATTCTCTACTCGGTGT	0.637																																						uc003ljq.1																			0					0						c.(94-96)CTC>CTA		protocadherin gamma subfamily A, 4 isoform 1							41.0	50.0	47.0					5																	140734863		2120	4269	6389	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140734863C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.96C>A	5.37:g.140734863C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.L32L	p.L32L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	96	+			32			Cadherin 1.|Extracellular (Potential).		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.96C>A	CCDS58979.1																																																																																				PASS	0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		36	46	36	46	---	---	---	---
POU4F3	5459	broad.mit.edu	37	5	145719834	145719834	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:145719834G>A	ENST00000230732.4	+	2	933	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	282					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A282T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACGTCCATCGCGGCGCCGGA	0.592																																						uc003loa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(844-846)GCG>ACG		POU class 4 homeobox 3							50.0	50.0	50.0					5																	145719834		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719834G>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.844G>A	5.37:g.145719834G>A	ENSP00000230732:p.Ala282Thr						p.A282T	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	933	+			282			Homeobox.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.844G>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865284	0.71949	.	.	ENSG00000091010	ENST00000230732	D	0.94723	-3.5	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89842	0.6832	N	0.00517	-1.405	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.94240	0.7484	10	0.66056	D	0.02	.	16.3979	0.83621	0.0:0.0:1.0:0.0	.	282	Q15319	PO4F3_HUMAN	T	282	ENSP00000230732:A282T	ENSP00000230732:A282T	A	+	1	0	POU4F3	145700027	1.000000	0.71417	0.919000	0.36401	0.989000	0.77384	9.627000	0.98412	2.372000	0.80975	0.462000	0.41574	GCG		PASS	0.592	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		9	41	9	41	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150925891	150925891	+	Silent	SNP	G	G	A	rs148379892	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:150925891G>A	ENST00000261800.5	-	9	4809	c.4797C>T	c.(4795-4797)agC>agT	p.S1599S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1599	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1599S(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAACCTTCGCTGTTCCCTG	0.458													G|||	7	0.00139776	0.0	0.0	5008	,	,		21239	0.0		0.0	False		,,,				2504	0.0072					uc003lue.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4795-4797)AGC>AGT		FAT tumor suppressor 2 precursor		G		0,4406		0,0,2203	67.0	63.0	64.0		4797	-7.6	0.1	5	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAT2	NM_001447.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1599/4350	150925891	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925891G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4797C>T	5.37:g.150925891G>A						GM2A_uc011dcs.1_Intron	p.S1599S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	4810	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1599			Extracellular (Potential).|Cadherin 14.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.4797C>T	CCDS4317.1																																																																																				PASS	0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		10	51	10	51	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150929057	150929057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:150929057G>A	ENST00000261800.5	-	8	4600	c.4588C>T	c.(4588-4590)Cag>Tag	p.Q1530*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1530	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1530*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTATTTCCTGGTCTCGGACC	0.498																																						uc003lue.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4588-4590)CAG>TAG		FAT tumor suppressor 2 precursor							52.0	52.0	52.0					5																	150929057		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150929057G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4588C>T	5.37:g.150929057G>A	ENSP00000261800:p.Gln1530*					GM2A_uc011dcs.1_Intron	p.Q1530*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4601	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1530			Extracellular (Potential).|Cadherin 13.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.4588C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	44	11.274041	0.99539	.	.	ENSG00000086570	ENST00000261800	.	.	.	4.81	4.81	0.61882	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	18.2322	0.89937	0.0:0.0:1.0:0.0	.	.	.	.	X	1530	.	ENSP00000261800:Q1530X	Q	-	1	0	FAT2	150909250	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.321000	0.79088	2.360000	0.80028	0.561000	0.74099	CAG		PASS	0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		18	36	18	36	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158141174	158141174	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:158141174C>A	ENST00000313708.6	-	12	1424	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R350M|EBF1_ENST00000517373.1_Missense_Mutation_p.R373M	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	381					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R381M(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCGCAGCCCTTTTGAGTAT	0.473			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(1141-1143)AGG>ATG		early B-cell factor							222.0	210.0	214.0					5																	158141174		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158141174C>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1142G>T	5.37:g.158141174C>A	ENSP00000322898:p.Arg381Met					EBF1_uc011ddw.1_Missense_Mutation_p.R249M|EBF1_uc011ddx.1_Missense_Mutation_p.R382M|EBF1_uc003lxl.3_Missense_Mutation_p.R350M	p.R381M	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	1444	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	381					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1142G>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120525	0.77323	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.45276	0.9;0.9;0.9	5.76	5.76	0.90799	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.999;0.982;0.971;1.0	T	0.74674	-0.3586	10	0.87932	D	0	-6.607	19.976	0.97309	0.0:1.0:0.0:0.0	.	381;368;381;350	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	M	381;381;350;373	ENSP00000322898:R381M;ENSP00000370029:R350M;ENSP00000428020:R373M	ENSP00000322898:R381M	R	-	2	0	EBF1	158073752	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	AGG		PASS	0.473	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		23	209	23	209	---	---	---	---
CCNJL	79616	broad.mit.edu	37	5	159680579	159680579	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:159680579C>G	ENST00000393977.3	-	7	1399	c.1114G>C	c.(1114-1116)Ggg>Cgg	p.G372R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.G324R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	372						nucleus (GO:0005634)		p.G372R(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGTACTCCCCGAGAGCAGG	0.632																																						uc003lyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1114-1116)GGG>CGG		cyclin J-like							63.0	71.0	68.0					5																	159680579		2085	4212	6297	SO:0001583	missense	79616					nucleus		g.chr5:159680579C>G	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1114G>C	5.37:g.159680579C>G	ENSP00000377547:p.Gly372Arg					CCNJL_uc011dee.1_Missense_Mutation_p.G324R|CCNJL_uc003lyc.1_RNA	p.G372R	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1366	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	372					Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.1114G>C	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.820097	0.32145	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.31510	1.9;1.49	4.99	3.21	0.36854	.	0.198869	0.44097	D	0.000500	T	0.38506	0.1043	L	0.55481	1.735	0.51767	D	0.999936	B;P	0.51449	0.399;0.945	B;P	0.53006	0.421;0.715	T	0.13737	-1.0498	10	0.72032	D	0.01	-12.9485	9.1618	0.37028	0.0:0.8296:0.0:0.1704	.	324;372	B4DZA8;Q8IV13	.;CCNJL_HUMAN	R	372;324	ENSP00000377547:G372R;ENSP00000257536:G324R	ENSP00000257536:G324R	G	-	1	0	CCNJL	159613157	0.032000	0.19561	0.003000	0.11579	0.077000	0.17291	2.918000	0.48829	0.520000	0.28426	-0.136000	0.14681	GGG		PASS	0.632	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		16	66	16	66	---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160837994	160837994	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:160837994C>A	ENST00000393959.1	-	5	527	c.528G>T	c.(526-528)ttG>ttT	p.L176F	GABRB2_ENST00000353437.6_Missense_Mutation_p.L176F|GABRB2_ENST00000517901.1_Missense_Mutation_p.L113F|GABRB2_ENST00000274547.2_Missense_Mutation_p.L176F|GABRB2_ENST00000520240.1_Missense_Mutation_p.L176F|GABRB2_ENST00000517547.1_Missense_Mutation_p.L16F			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	176					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.L176F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)|Fospropofol(DB06716)|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)	TCTCAATTTCCAAGGTGCAGT	0.478																																						uc003lys.1																			2	Substitution - Missense(2)		lung(2)		0						c.(526-528)TTG>TTT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						200.0	180.0	187.0					5																	160837994		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160837994C>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.528G>T	5.37:g.160837994C>A	ENSP00000377531:p.Leu176Phe					GABRB2_uc011deh.1_Missense_Mutation_p.L15F|GABRB2_uc003lyr.1_Missense_Mutation_p.L176F|GABRB2_uc003lyt.1_Missense_Mutation_p.L176F|GABRB2_uc010jiu.1_Missense_Mutation_p.L113F	p.L176F	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	746	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	176			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.528G>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643335	0.67244	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.89	3.81	0.43845	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.88503	0.6454	M	0.77616	2.38	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.997	D	0.87845	0.2654	10	0.87932	D	0	.	4.9655	0.14089	0.166:0.6078:0.0:0.2261	.	16;113;176;176	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	F	176;176;176;176;113;16	ENSP00000377531:L176F;ENSP00000274547:L176F;ENSP00000274546:L176F;ENSP00000429320:L176F;ENSP00000430532:L113F;ENSP00000429750:L16F	ENSP00000274547:L176F	L	-	3	2	GABRB2	160770572	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.210000	0.42816	1.507000	0.48752	0.563000	0.77884	TTG		PASS	0.478	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			10	110	10	110	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180043372	180043372	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:180043372C>T	ENST00000261937.6	-	23	3292	c.3214G>A	c.(3214-3216)Ggc>Agc	p.G1072S	FLT4_ENST00000393347.3_Missense_Mutation_p.G1072S|FLT4_ENST00000502649.1_Missense_Mutation_p.G1072S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1072	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G1072S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACACTGCCCTTGCGGACG	0.607																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			2	Substitution - Missense(2)		lung(2)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(3214-3216)GGC>AGC		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						113.0	102.0	106.0					5																	180043372		2203	4300	6503	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180043372C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3214G>A	5.37:g.180043372C>T	ENSP00000261937:p.Gly1072Ser					FLT4_uc003mlz.3_Missense_Mutation_p.G1072S	p.G1072S	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	23	3293	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1072			Cytoplasmic (Potential).|Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3214G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623642	0.87460	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	3.19	3.19	0.36642	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.86314	0.5903	L	0.37850	1.14	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.87296	0.2302	9	0.54805	T	0.06	.	14.8959	0.70644	0.0:1.0:0.0:0.0	.	1072;1072	E9PD35;P35916	.;VGFR3_HUMAN	S	1072;1072;1072;110	ENSP00000261937:G1072S;ENSP00000377016:G1072S;ENSP00000426057:G1072S;ENSP00000421535:G110S	ENSP00000261937:G1072S	G	-	1	0	FLT4	179975978	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.579000	0.82511	1.807000	0.52817	0.491000	0.48974	GGC		PASS	0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			21	43	21	43	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180056733	180056733	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:180056733G>C	ENST00000261937.6	-	6	857	c.779C>G	c.(778-780)tCa>tGa	p.S260*	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Nonsense_Mutation_p.S260*|FLT4_ENST00000502649.1_Nonsense_Mutation_p.S260*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	260	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S260*(2)|p.S70*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTGACACCTGAGTTAAACTC	0.587																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			3	Substitution - Nonsense(3)		lung(3)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(778-780)TCA>TGA		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						76.0	63.0	68.0					5																	180056733		2201	4295	6496	SO:0001587	stop_gained	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056733G>C	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.779C>G	5.37:g.180056733G>C	ENSP00000261937:p.Ser260*					FLT4_uc003mlz.3_Nonsense_Mutation_p.S260*|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Nonsense_Mutation_p.S260*|FLT4_uc011dgz.1_Nonsense_Mutation_p.S260*|FLT4_uc011dha.1_3'UTR	p.S260*	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	6	858	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	260			Ig-like C2-type 3.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	ENST00000261937.6	37	c.779C>G	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904132	0.72754	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	18.4742	0.90786	0.0:0.0:1.0:0.0	.	.	.	.	X	260;260;260;70	.	ENSP00000261937:S260X	S	-	2	0	FLT4	179989339	1.000000	0.71417	0.914000	0.36105	0.204000	0.24138	9.199000	0.95003	2.440000	0.82611	0.561000	0.74099	TCA		PASS	0.587	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	18	5	18	---	---	---	---
BTNL9	153579	broad.mit.edu	37	5	180474980	180474980	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr5:180474980G>A	ENST00000327705.9	+	3	394	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	BTNL9_ENST00000376842.3_Missense_Mutation_p.V55M|BTNL9_ENST00000515271.1_5'UTR|BTNL9_ENST00000376841.2_Missense_Mutation_p.V55M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	55	Ig-like V-type.					integral component of membrane (GO:0016021)		p.V55M(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGGAGGAGGTGGAGTTCCC	0.557																																						uc003mmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(163-165)GTG>ATG		butyrophilin-like 9 precursor							69.0	63.0	65.0					5																	180474980		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180474980G>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.163G>A	5.37:g.180474980G>A	ENSP00000330200:p.Val55Met					BTNL9_uc011dhi.1_Translation_Start_Site	p.V55M	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	394	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	55			Extracellular (Potential).|Ig-like V-type.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.163G>A	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757918	0.49468	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850	T;T;T	0.73789	-0.78;-0.78;-0.78	4.87	1.8	0.24995	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33938	N	0.004407	D	0.85080	0.5615	M	0.91354	3.2	0.09310	N	1	D	0.61697	0.99	D	0.67382	0.951	T	0.74609	-0.3608	10	0.66056	D	0.02	.	6.3685	0.21468	0.4164:0.0:0.5836:0.0	.	55	Q6UXG8	BTNL9_HUMAN	M	55	ENSP00000366037:V55M;ENSP00000330200:V55M;ENSP00000366038:V55M	ENSP00000330200:V55M	V	+	1	0	BTNL9	180407586	0.968000	0.33430	0.068000	0.19968	0.005000	0.04900	1.501000	0.35693	0.609000	0.30018	-0.142000	0.14014	GTG		PASS	0.557	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		20	37	20	37	---	---	---	---
HUS1B	135458	broad.mit.edu	37	6	656563	656563	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:656563C>A	ENST00000380907.2	-	1	400	c.382G>T	c.(382-384)Gtg>Ttg	p.V128L	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	128					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)		p.V128L(1)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TCGTGCACCACGCTGCGAGCG	0.741																																						uc003mtg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)GTG>TTG		HUS1 checkpoint protein B							16.0	20.0	19.0					6																	656563		2191	4277	6468	SO:0001583	missense	135458							g.chr6:656563C>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.382G>T	6.37:g.656563C>A	ENSP00000370293:p.Val128Leu					EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	p.V128L	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	402	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	128					Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	c.382G>T	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033802	0.35893	.	.	ENSG00000188996	ENST00000380907	T	0.21543	2.0	3.59	-0.651	0.11454	.	0.085411	0.46145	U	0.000301	T	0.06690	0.0171	M	0.62088	1.915	0.20307	N	0.999911	B	0.19200	0.034	B	0.22601	0.04	T	0.30416	-0.9979	10	0.45353	T	0.12	.	4.0523	0.09801	0.0:0.499:0.1743:0.3266	.	128	Q8NHY5	HUS1B_HUMAN	L	128	ENSP00000370293:V128L	ENSP00000370293:V128L	V	-	1	0	HUS1B	601563	0.021000	0.18746	0.000000	0.03702	0.001000	0.01503	0.290000	0.18975	-0.286000	0.09076	0.561000	0.74099	GTG		PASS	0.741	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		6	30	6	30	---	---	---	---
ECI2	10455	broad.mit.edu	37	6	4131009	4131009	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:4131009G>A	ENST00000380118.3	-	3	340	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	ECI2_ENST00000380125.2_Silent_p.L72L|ECI2_ENST00000361538.2_Silent_p.L72L|ECI2_ENST00000465828.1_Silent_p.L72L|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	102	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)	p.L102L(1)|p.L72L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ACCTTGGGCAGGCTGCCAAGG	0.438																																						uc003mwf.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(304-306)CTG>TTG		peroxisomal D3,D2-enoyl-CoA isomerase isoform 2							150.0	137.0	141.0					6																	4131009		2203	4300	6503	SO:0001819	synonymous_variant	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4131009G>A	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.304C>T	6.37:g.4131009G>A						PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Silent_p.L72L|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA	p.L102L	NM_206836	NP_996667	O75521	ECI2_HUMAN			3	341	-	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	102			ACB.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Silent	SNP	ENST00000380118.3	37	c.304C>T	CCDS43420.2																																																																																				PASS	0.438	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		30	173	30	173	---	---	---	---
GMPR	2766	broad.mit.edu	37	6	16290709	16290709	+	Silent	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:16290709T>C	ENST00000259727.4	+	8	828	c.714T>C	c.(712-714)ttT>ttC	p.F238F	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	238					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.F238F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAGCAGATTTTGTCATGCTGG	0.512																																						uc003nbs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(712-714)TTT>TTC		guanosine monophosphate reductase							283.0	276.0	279.0					6																	16290709		2203	4300	6503	SO:0001819	synonymous_variant	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16290709T>C		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.714T>C	6.37:g.16290709T>C							p.F238F	NM_006877	NP_006868	P36959	GMPR1_HUMAN			8	828	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	238					Q96HQ6	Silent	SNP	ENST00000259727.4	37	c.714T>C	CCDS4537.1																																																																																				PASS	0.512	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			231	322	231	322	---	---	---	---
HIST1H2AM	8336	broad.mit.edu	37	6	27860915	27860915	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:27860915C>T	ENST00000359611.2	-	1	48	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	5						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.G5S(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CCCTGCTTGCCACGTCCAGAC	0.577																																						uc003nkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(13-15)GGC>AGC		histone cluster 1, H2am							38.0	40.0	39.0					6																	27860915		2203	4300	6503	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860915C>T	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.13G>A	6.37:g.27860915C>T	ENSP00000352627:p.Gly5Ser					HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.G5S	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN			1	49	-			5					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.13G>A	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697431	0.48202	.	.	ENSG00000233224	ENST00000359611	T	0.44482	0.92	3.92	3.92	0.45320	.	0.000000	0.30492	U	0.009520	T	0.63510	0.2517	M	0.90483	3.12	0.41135	D	0.985911	.	.	.	.	.	.	T	0.72937	-0.4140	8	0.87932	D	0	.	15.7198	0.77700	0.0:1.0:0.0:0.0	.	.	.	.	S	5	ENSP00000352627:G5S	ENSP00000352627:G5S	G	-	1	0	HIST1H2AM	27968894	1.000000	0.71417	0.649000	0.29536	0.600000	0.36913	7.270000	0.78493	2.475000	0.83589	0.561000	0.74099	GGC		PASS	0.577	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		22	43	22	43	---	---	---	---
HIST1H2BO	8348	broad.mit.edu	37	6	27861469	27861469	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:27861469G>A	ENST00000303806.4	+	1	267	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	77					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77K(2)									CATCGCTGGCGAGGCTTCCCG	0.617																																						uc003nkc.1																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(229-231)GAG>AAG		histone cluster 1, H2bo							114.0	107.0	109.0					6																	27861469		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861469G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.229G>A	6.37:g.27861469G>A	ENSP00000303408:p.Glu77Lys					HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	p.E77K	NM_003527	NP_003518	P23527	H2B1O_HUMAN			1	267	+			77					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.229G>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139790	0.77775	.	.	ENSG00000196331	ENST00000303806	T	0.34472	1.36	3.51	3.51	0.40186	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.39036	0.1063	M	0.63428	1.95	0.48975	D	0.999731	D	0.63046	0.992	P	0.54026	0.74	T	0.36237	-0.9756	9	0.54805	T	0.06	.	14.8991	0.70664	0.0:0.0:1.0:0.0	.	77	P23527	H2B1O_HUMAN	K	77	ENSP00000303408:E77K	ENSP00000303408:E77K	E	+	1	0	HIST1H2BO	27969448	1.000000	0.71417	0.998000	0.56505	0.085000	0.17905	7.320000	0.79064	2.270000	0.75569	0.556000	0.70494	GAG		PASS	0.617	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		63	102	63	102	---	---	---	---
ZKSCAN4	387032	broad.mit.edu	37	6	28213023	28213023	+	Silent	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:28213023A>G	ENST00000377294.2	-	5	1752	c.1509T>C	c.(1507-1509)atT>atC	p.I503I	ZKSCAN4_ENST00000423974.2_Silent_p.I348I	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	503					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.I503I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTGATGTTCAATAAGACTTC	0.433																																						uc003nks.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1507-1509)ATT>ATC		zinc finger with KRAB and SCAN domains 4							120.0	116.0	117.0					6																	28213023		2203	4300	6503	SO:0001819	synonymous_variant	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213023A>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1509T>C	6.37:g.28213023A>G						ZKSCAN4_uc011dlb.1_Silent_p.I348I	p.I503I	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			5	1753	-			503			C2H2-type 6.		B2RE32|Q5U7L4	Silent	SNP	ENST00000377294.2	37	c.1509T>C	CCDS4647.1																																																																																				PASS	0.433	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		78	110	78	110	---	---	---	---
ATAT1	79969	broad.mit.edu	37	6	30610730	30610730	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:30610730G>A	ENST00000376485.4	+	10	940	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	ATAT1_ENST00000319027.5_Missense_Mutation_p.A281T|ATAT1_ENST00000376483.4_Missense_Mutation_p.A304T|ATAT1_ENST00000329992.8_Missense_Mutation_p.A304T|ATAT1_ENST00000318999.7_Missense_Mutation_p.A281T|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376478.2_Missense_Mutation_p.A281T|ATAT1_ENST00000330083.5_Missense_Mutation_p.A292T					alpha tubulin acetyltransferase 1									p.A304T(1)|p.A292T(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						ACACCCTACCGCCCGCCTTCT	0.622																																						uc003nqu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(910-912)GCC>ACC		hypothetical protein LOC79969 isoform 2							73.0	68.0	70.0					6																	30610730		2203	4300	6503	SO:0001583	missense	79969						tubulin N-acetyltransferase activity	g.chr6:30610730G>A	AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"""alpha-tubulin N-acetyltransferase"""	615556	"""chromosome 6 open reading frame 134"""	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.910G>A	6.37:g.30610730G>A	ENSP00000365668:p.Ala304Thr					C6orf134_uc003nqr.3_Missense_Mutation_p.A304T|C6orf134_uc003rdc.2_Missense_Mutation_p.A304T|C6orf134_uc003nqs.3_Missense_Mutation_p.A281T|C6orf134_uc003rdd.2_Missense_Mutation_p.A281T|C6orf134_uc003nqt.2_Intron|C6orf134_uc011dmm.1_Missense_Mutation_p.A269T|C6orf134_uc003nqv.2_Missense_Mutation_p.A292T	p.A304T	NM_024909	NP_079185	Q5SQI0	ATAT_HUMAN			10	960	+			304						Missense_Mutation	SNP	ENST00000376485.4	37	c.910G>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.130477	0.77549	.	.	ENSG00000137343	ENST00000318999;ENST00000376485;ENST00000376478;ENST00000319027;ENST00000376483;ENST00000329992;ENST00000330083	.	.	.	4.5	4.5	0.54988	.	0.246607	0.28983	N	0.013508	T	0.58148	0.2102	L	0.51422	1.61	0.33369	D	0.573291	D;P;P;P;D;D	0.89917	0.999;0.912;0.934;0.885;0.998;1.0	P;P;B;B;P;D	0.87578	0.844;0.455;0.331;0.336;0.852;0.998	T	0.60131	-0.7323	9	0.52906	T	0.07	-13.7517	14.5704	0.68208	0.0:0.0:1.0:0.0	.	269;281;292;304;281;304	B7Z4Q7;Q5SQI0-3;Q5SQI0-2;Q5SQI0;Q5SQI0-6;Q5SQI0-4	.;.;.;ATAT_HUMAN;.;.	T	281;304;281;281;304;304;292	.	ENSP00000324222:A281T	A	+	1	0	ATAT1	30718709	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	4.834000	0.62774	2.495000	0.84180	0.511000	0.50034	GCC		PASS	0.622	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		29	208	29	208	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32023670	32023670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:32023670C>A	ENST00000375244.3	-	24	8626	c.8425G>T	c.(8425-8427)Gag>Tag	p.E2809*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.E2809*			P22105	TENX_HUMAN	tenascin XB	2867	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.E2896*(1)|p.E2809*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCCGCCCCTCGTGGAGGCCG	0.637																																						uc003nzl.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(8425-8427)GAG>TAG		tenascin XB isoform 1 precursor							61.0	69.0	66.0					6																	32023670		1238	2542	3780	SO:0001587	stop_gained	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32023670C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8425G>T	6.37:g.32023670C>A	ENSP00000364393:p.Glu2809*						p.E2809*	NM_019105	NP_061978	P22105	TENX_HUMAN			24	8627	-			2867			Fibronectin type-III 20.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	SNP	ENST00000375244.3	37	c.8425G>T		.	.	.	.	.	.	.	.	.	.	C	50	16.818348	0.99872	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	.	.	.	5.04	-0.513	0.11962	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.0086	0.24849	0.0:0.4675:0.3848:0.1478	.	.	.	.	X	2809	.	ENSP00000364393:E2809X	E	-	1	0	TNXB	32131648	0.000000	0.05858	0.022000	0.16811	0.894000	0.52154	0.371000	0.20450	-0.480000	0.06803	0.462000	0.41574	GAG		PASS	0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		12	49	12	49	---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33638469	33638469	+	Silent	SNP	G	G	T	rs202110116		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:33638469G>T	ENST00000374316.5	+	21	3523	c.2463G>T	c.(2461-2463)gcG>gcT	p.A821A	ITPR3_ENST00000605930.1_Silent_p.A821A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	821					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.A821A(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)	ACCTCAACGCGTCCCGAGATG	0.587																																						uc011drk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(2461-2463)GCG>GCT		inositol 1,4,5-triphosphate receptor, type 3							140.0	113.0	122.0					6																	33638469		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:33638469G>T	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.2463G>T	6.37:g.33638469G>T							p.A821A	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			20	2682	+			821			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.2463G>T	CCDS4783.1																																																																																				PASS	0.587	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		30	115	30	115	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35423605	35423605	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:35423605G>T	ENST00000229769.2	+	2	515	c.330G>T	c.(328-330)ccG>ccT	p.P110P		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	110					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P110P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CATCGCTGCCGGAAAGTGGGC	0.617			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003oko.1			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	N|F|S	"""Fanconi anemia, complementation group E"""			L		AML|leukemia			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(328-330)CCG>CCT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group E							51.0	53.0	53.0					6																	35423605		2203	4300	6503	SO:0001819	synonymous_variant	2178	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35423605G>T	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.330G>T	6.37:g.35423605G>T						FANCE_uc010jvw.1_Silent_p.P110P	p.P110P	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN			2	515	+			110					A8K907|Q4ZGH2	Silent	SNP	ENST00000229769.2	37	c.330G>T	CCDS4805.1																																																																																				PASS	0.617	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			19	63	19	63	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38838312	38838312	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:38838312C>T	ENST00000359357.3	+	47	6567	c.6313C>T	c.(6313-6315)Cca>Tca	p.P2105S	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2322S|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2069S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2105	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P2105S(2)		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						GATTAACCATCCACCCTGGAA	0.388																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6313-6315)CCA>TCA		dynein, axonemal, heavy polypeptide 8							66.0	62.0	64.0					6																	38838312		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38838312C>T	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	ENST00000359357.3:c.6313C>T	6.37:g.38838312C>T	ENSP00000352312:p.Pro2105Ser						p.P2105S	NM_001371	NP_001362					47	6913	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6313C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.582992	0.96578	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.41758	0.99;0.99;0.99	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	M	0.69523	2.12	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	T	0.53085	-0.8488	10	0.49607	T	0.09	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	2105	Q96JB1	DYH8_HUMAN	S	2310;2310;2105;2069	ENSP00000333363:P2310S;ENSP00000352312:P2105S;ENSP00000402294:P2069S	ENSP00000333363:P2310S	P	+	1	0	DNAH8	38946290	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.435000	0.80391	2.882000	0.98803	0.655000	0.94253	CCA		PASS	0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		35	46	35	46	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38913256	38913256	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:38913256G>A	ENST00000359357.3	+	78	11624	c.11370G>A	c.(11368-11370)ctG>ctA	p.L3790L	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.L4007L|DNAH8_ENST00000441566.1_Silent_p.L3754L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3790					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.L3790L(2)		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						GAGCAGCTCTGGACCTGAAAG	0.448																																						uc003ooe.1																			2	Substitution - coding silent(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(11368-11370)CTG>CTA		dynein, axonemal, heavy polypeptide 8							102.0	96.0	98.0					6																	38913256		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38913256G>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	ENST00000359357.3:c.11370G>A	6.37:g.38913256G>A						DNAH8_uc003oog.1_Silent_p.L239L|uc003oof.1_Intron	p.L3790L	NM_001371	NP_001362					78	11970	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.11370G>A																																																																																					PASS	0.448	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		52	105	52	105	---	---	---	---
KCNK16	83795	broad.mit.edu	37	6	39290233	39290233	+	Silent	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:39290233A>G	ENST00000373229.5	-	1	97	c.84T>C	c.(82-84)ggT>ggC	p.G28G	KCNK16_ENST00000425054.2_Silent_p.G28G|KCNK16_ENST00000437525.2_Silent_p.G28G|KCNK16_ENST00000373227.4_Silent_p.G28G|KCNK16_ENST00000507712.1_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	28					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G28G(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGATAGTGGCACCGAGCAGCA	0.637																																						uc003ooq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(82-84)GGT>GGC		potassium channel, subfamily K, member 16							39.0	35.0	36.0					6																	39290233		2203	4300	6503	SO:0001819	synonymous_variant	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39290233A>G	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.84T>C	6.37:g.39290233A>G						KCNK16_uc003oor.3_Silent_p.G28G|KCNK16_uc010jwy.2_Silent_p.G28G|KCNK16_uc011dtz.1_Silent_p.G28G	p.G28G	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			1	98	-			28			Helical; (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	c.84T>C	CCDS4843.1																																																																																				PASS	0.637	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		6	23	6	23	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46659204	46659204	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:46659204G>T	ENST00000316081.6	+	1	3339	c.3339G>T	c.(3337-3339)gtG>gtT	p.V1113V	TDRD6_ENST00000544460.1_Silent_p.V1113V	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1113					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.V1113V(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGTGGTGGTGTGGTTTCAGG	0.368																																						uc003oyj.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(3337-3339)GTG>GTT		tudor domain containing 6							138.0	136.0	137.0					6																	46659204		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46659204G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3339G>T	6.37:g.46659204G>T						TDRD6_uc010jze.2_Silent_p.V1107V	p.V1113V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3339	+			1113					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.3339G>T	CCDS34470.1																																																																																				PASS	0.368	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		97	143	97	143	---	---	---	---
FBXO9	26268	broad.mit.edu	37	6	52945894	52945894	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:52945894C>T	ENST00000244426.6	+	5	738	c.566C>T	c.(565-567)tCa>tTa	p.S189L	FBXO9_ENST00000370939.3_Missense_Mutation_p.S145L|FBXO9_ENST00000323557.7_Missense_Mutation_p.S179L	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	189	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.S189L(1)		kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					ATTCACATATCAGGTGTGAAT	0.388																																						uc003pbo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(565-567)TCA>TTA		F-box only protein 9 isoform 1							108.0	101.0	103.0					6																	52945894		1903	4134	6037	SO:0001583	missense	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52945894C>T	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.566C>T	6.37:g.52945894C>T	ENSP00000244426:p.Ser189Leu					FBXO9_uc003pbk.2_Missense_Mutation_p.S145L|FBXO9_uc003pbl.2_Missense_Mutation_p.S179L|FBXO9_uc003pbm.2_Missense_Mutation_p.S69L|FBXO9_uc003pbn.2_Missense_Mutation_p.S69L	p.S189L	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN			6	617	+	Lung NSC(77;0.103)		189			F-box.		A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	c.566C>T	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995787	0.93167	.	.	ENSG00000112146	ENST00000498744;ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.25414	1.8;1.8;1.8	5.4	5.4	0.78164	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	M	0.80508	2.5	0.80722	D	1	D;P;P	0.89917	1.0;0.898;0.883	D;P;P	0.97110	1.0;0.874;0.791	T	0.46345	-0.9198	10	0.48119	T	0.1	-7.6719	19.1173	0.93346	0.0:1.0:0.0:0.0	.	179;296;189	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	L	145;145;179;189	ENSP00000359977:S145L;ENSP00000326968:S179L;ENSP00000244426:S189L	ENSP00000244426:S189L	S	+	2	0	FBXO9	53053853	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.117000	0.77129	2.688000	0.91661	0.591000	0.81541	TCA		PASS	0.388	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			53	80	53	80	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55216280	55216280	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:55216280G>T	ENST00000340465.2	+	5	686	c.600G>T	c.(598-600)caG>caT	p.Q200H		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	200					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q200H(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTGTCAGCAGTCCAAAGAAG	0.438																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(598-600)CAG>CAT		GDNF family receptor alpha like precursor							139.0	135.0	137.0					6																	55216280		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216280G>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.600G>T	6.37:g.55216280G>T	ENSP00000343636:p.Gln200His						p.Q200H	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	686	+	Lung NSC(77;0.0875)|Renal(3;0.122)		200			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.600G>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292115	0.59976	.	.	ENSG00000187871	ENST00000340465	T	0.63913	-0.07	6.05	2.3	0.28687	GDNF/GAS1 (2);	0.450170	0.24298	N	0.039741	T	0.46151	0.1378	N	0.24115	0.695	0.32616	N	0.524057	D	0.76494	0.999	D	0.71184	0.972	T	0.48843	-0.8999	10	0.49607	T	0.09	-10.732	5.1232	0.14871	0.3885:0.0:0.4774:0.1341	.	200	Q6UXV0	GFRAL_HUMAN	H	200	ENSP00000343636:Q200H	ENSP00000343636:Q200H	Q	+	3	2	GFRAL	55324239	0.982000	0.34865	1.000000	0.80357	0.998000	0.95712	0.049000	0.14099	0.434000	0.26340	0.650000	0.86243	CAG		PASS	0.438	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		42	199	42	199	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57472429	57472429	+	3'UTR	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:57472429A>G	ENST00000389488.2	+	0	1305				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.G406G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCTCTCCTGGAGGGATAAGCC	0.448																																						uc003pdx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1216-1218)GGA>GGG		DNA primase polypeptide 2							174.0	163.0	167.0					6																	57472429		2020	4196	6216	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57472429A>G		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1302A>G	6.37:g.57472429A>G							p.G406G	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	13	1305	+			406					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000389488.2	37	c.1218A>G																																																																																					PASS	0.448	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		7	52	7	52	---	---	---	---
DDX43	55510	broad.mit.edu	37	6	74104640	74104640	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:74104640C>T	ENST00000370336.4	+	1	170	c.12C>T	c.(10-12)caC>caT	p.H4H	snoU13_ENST00000459178.1_RNA|DDX43_ENST00000539829.1_Silent_p.H4H|OOEP_ENST00000370363.1_De_novo_Start_OutOfFrame	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	4					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.H4H(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTCCCACCACGGAGGAGCTC	0.632																																						uc003pgv.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(-318--314)CCGTG>CCATG		oocyte expressed protein homolog							49.0	53.0	52.0					6																	74104640		2203	4300	6503	SO:0001819	synonymous_variant	441161					cytoplasm		g.chr6:74104640C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.12C>T	6.37:g.74104640C>T						DDX43_uc011dyn.1_RNA|DDX43_uc003pgw.2_Silent_p.H4H		NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			1	177	-								B4E0C8|Q6NXR1	Translation_Start_Site	SNP	ENST00000370336.4	37	c.-316G>A	CCDS4977.1																																																																																				PASS	0.632	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		21	98	21	98	---	---	---	---
SENP6	26054	broad.mit.edu	37	6	76388391	76388391	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:76388391C>T	ENST00000447266.2	+	15	2419	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	SENP6_ENST00000541192.1_Silent_p.F243F|SENP6_ENST00000370010.2_Silent_p.F640F|SENP6_ENST00000370014.3_Silent_p.F647F|SENP6_ENST00000327284.8_Silent_p.F640F	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	647					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.F647F(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)				ACACCATCTTCATTGGCCCAG	0.299																																						uc003pid.3																			2	Substitution - coding silent(2)		lung(2)	breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(1939-1941)TTC>TTT		SUMO1/sentrin specific peptidase 6 isoform 1							131.0	124.0	126.0					6																	76388391		1798	4080	5878	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76388391C>T		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.1941C>T	6.37:g.76388391C>T						SENP6_uc003pie.3_Silent_p.F640F|SENP6_uc010kbf.2_RNA|SENP6_uc003pic.2_Silent_p.F640F|SENP6_uc003pif.1_Silent_p.F538F	p.F647F	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			15	2560	+		all_hematologic(105;0.189)	647					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.1941C>T	CCDS47454.1																																																																																				PASS	0.299	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		167	111	167	111	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838798	100838798	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:100838798G>T	ENST00000369208.3	-	12	2522	c.1740C>A	c.(1738-1740)aaC>aaA	p.N580K	SIM1_ENST00000262901.4_Missense_Mutation_p.N580K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	580	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.N580K(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCTGTAATCTGTTCTCTTCTT	0.448																																						uc003pqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1738-1740)AAC>AAA		single-minded homolog 1							86.0	86.0	86.0					6																	100838798		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838798G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1740C>A	6.37:g.100838798G>T	ENSP00000358210:p.Asn580Lys					SIM1_uc010kcu.2_Missense_Mutation_p.N580K	p.N580K	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1947	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	580			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1740C>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869835	0.33069	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.32988	1.43;1.43	5.82	4.95	0.65309	Single-minded, C-terminal (2);	0.081610	0.85682	D	0.000000	T	0.08626	0.0214	N	0.08118	0	0.43719	D	0.996193	B	0.02656	0.0	B	0.10450	0.005	T	0.06320	-1.0833	10	0.45353	T	0.12	.	14.6584	0.68850	0.0694:0.0:0.9306:0.0	.	580	P81133	SIM1_HUMAN	K	580	ENSP00000358210:N580K;ENSP00000262901:N580K	ENSP00000262901:N580K	N	-	3	2	SIM1	100945519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.029000	0.41098	1.464000	0.47987	0.557000	0.71058	AAC		PASS	0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		100	87	100	87	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838801	100838801	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:100838801C>T	ENST00000369208.3	-	12	2519	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E	SIM1_ENST00000262901.4_Silent_p.E579E			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	579	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E579E(1)|p.E579D(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTAATCTGTTCTCTTCTTCTT	0.448																																						uc003pqj.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E579D(1)	ovary(1)|lung(1)	ovary(4)	4						c.(1735-1737)GAG>GAA		single-minded homolog 1							87.0	86.0	86.0					6																	100838801		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838801C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1737G>A	6.37:g.100838801C>T						SIM1_uc010kcu.2_Silent_p.E579E	p.E579E	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1944	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	579			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1737G>A	CCDS5045.1																																																																																				PASS	0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		30	161	30	161	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102337543	102337543	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:102337543C>T	ENST00000421544.1	+	11	2043	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	GRIK2_ENST00000413795.1_Missense_Mutation_p.A518V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A469V|GRIK2_ENST00000369138.1_Missense_Mutation_p.A518V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A518V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A518V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	518	Glutamate binding. {ECO:0000250}.				behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A518V(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCTCCACTGGCTATTACCTAT	0.383																																						uc003pqp.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1552-1554)GCT>GTT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						102.0	99.0	100.0					6																	102337543		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102337543C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1553C>T	6.37:g.102337543C>T	ENSP00000397026:p.Ala518Val					GRIK2_uc003pqn.2_Missense_Mutation_p.A518V|GRIK2_uc003pqo.3_Missense_Mutation_p.A518V|GRIK2_uc010kcw.2_Missense_Mutation_p.A518V	p.A518V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	11	1802	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	518			Glutamate binding (By similarity).|Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1553C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344761	0.82022	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	L	0.27053	0.805	0.58432	D	0.999999	B;B;B	0.33238	0.403;0.133;0.403	B;B;B	0.32393	0.145;0.043;0.094	T	0.13926	-1.0491	10	0.87932	D	0	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	518;518;518	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	518;518;518;518;518;518;469;117	ENSP00000397026:A518V;ENSP00000405596:A518V;ENSP00000358134:A518V;ENSP00000358133:A518V;ENSP00000313276:A518V;ENSP00000358130:A469V;ENSP00000407140:A117V	ENSP00000313276:A518V	A	+	2	0	GRIK2	102444236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.626000	0.88956	0.650000	0.86243	GCT		PASS	0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			39	175	39	175	---	---	---	---
SESN1	27244	broad.mit.edu	37	6	109321750	109321750	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:109321750C>T	ENST00000356644.7	-	4	590	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SESN1_ENST00000302071.2_Missense_Mutation_p.E100K|SESN1_ENST00000436639.2_Missense_Mutation_p.E225K|RP11-787I22.3_ENST00000605885.1_RNA	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	166					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)		p.E225K(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TTGTTAAGTTCTCCTAAATTC	0.403																																						uc003pst.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)GAA>AAA		sestrin 1							130.0	124.0	126.0					6																	109321750		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109321750C>T	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.496G>A	6.37:g.109321750C>T	ENSP00000349061:p.Glu166Lys					SESN1_uc003psu.2_Missense_Mutation_p.E225K	p.E166K	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	4	588	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	166					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.496G>A	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834760	0.91036	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.45668	0.89;0.89;0.89	5.99	5.99	0.97316	.	0.043520	0.85682	D	0.000000	T	0.41442	0.1159	M	0.65498	2.005	0.80722	D	1	P;P	0.43938	0.787;0.822	B;P	0.45753	0.359;0.492	T	0.12477	-1.0546	10	0.28530	T	0.3	-23.2177	20.4777	0.99188	0.0:1.0:0.0:0.0	.	225;166	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	K	225;100;166	ENSP00000393762:E225K;ENSP00000306734:E100K;ENSP00000349061:E166K	ENSP00000306734:E100K	E	-	1	0	SESN1	109428443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	GAA		PASS	0.403	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		34	287	34	287	---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109757363	109757363	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:109757363T>C	ENST00000521072.2	-	2	755	c.175A>G	c.(175-177)Ata>Gta	p.I59V	PPIL6_ENST00000424445.2_Intron|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Missense_Mutation_p.I59V	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	59					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I59V(1)		large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		GGAACTAATATAGGATCTTCA	0.328																																						uc003ptg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)ATA>GTA		peptidylprolyl isomerase-like 6 isoform 1							95.0	101.0	99.0					6																	109757363		2203	4300	6503	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757363T>C		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.175A>G	6.37:g.109757363T>C	ENSP00000427929:p.Ile59Val					PPIL6_uc010kdo.2_Intron|PPIL6_uc010kdp.2_Missense_Mutation_p.I59V	p.I59V	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	229	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	59					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.175A>G	CCDS5074.1	.	.	.	.	.	.	.	.	.	.	T	1.425	-0.571848	0.03882	.	.	ENSG00000185250	ENST00000440797;ENST00000521072	T;T	0.18960	2.18;2.19	5.48	-0.103	0.13609	.	0.434101	0.24165	N	0.040948	T	0.01835	0.0058	N	0.05306	-0.075	0.24658	N	0.99348	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45101	-0.9284	10	0.05436	T	0.98	-6.3535	9.7326	0.40370	0.0:0.4591:0.0:0.5409	.	59;59	A9NIU9;Q8IXY8	.;PPIL6_HUMAN	V	59	ENSP00000392257:I59V;ENSP00000427929:I59V	ENSP00000392257:I59V	I	-	1	0	PPIL6	109864056	0.333000	0.24731	0.947000	0.38551	0.978000	0.69477	0.107000	0.15375	-0.239000	0.09710	-0.274000	0.10170	ATA		PASS	0.328	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			411	122	411	122	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117248364	117248364	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:117248364C>T	ENST00000332958.2	+	17	2076	c.2060C>T	c.(2059-2061)cCc>cTc	p.P687L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	687					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.P687L(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCATTTATCCCACTCTCCCT	0.522																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2059-2061)CCC>CTC		regulatory factor X, 6							161.0	147.0	152.0					6																	117248364		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248364C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2060C>T	6.37:g.117248364C>T	ENSP00000332208:p.Pro687Leu						p.P687L	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			17	2123	+			687					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2060C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756333	0.49362	.	.	ENSG00000185002	ENST00000332958	T	0.55413	0.52	5.59	4.64	0.57946	.	0.194878	0.47852	D	0.000202	T	0.28300	0.0699	L	0.36672	1.1	0.44485	D	0.997428	B	0.33583	0.418	B	0.27380	0.079	T	0.36114	-0.9761	10	0.72032	D	0.01	-21.2504	13.2056	0.59793	0.2752:0.7248:0.0:0.0	.	687	Q8HWS3	RFX6_HUMAN	L	687	ENSP00000332208:P687L	ENSP00000332208:P687L	P	+	2	0	RFX6	117355057	1.000000	0.71417	0.972000	0.41901	0.922000	0.55478	4.798000	0.62510	2.634000	0.89283	0.591000	0.81541	CCC		PASS	0.522	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		30	245	30	245	---	---	---	---
CENPW	387103	broad.mit.edu	37	6	126661455	126661455	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:126661455G>C	ENST00000368328.4	+	1	136	c.36G>C	c.(34-36)caG>caC	p.Q12H	CENPW_ENST00000368326.1_Missense_Mutation_p.Q12H|CENPW_ENST00000368325.1_Missense_Mutation_p.Q12H			Q5EE01	CENPW_HUMAN	centromere protein W	12					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q12H(1)		kidney(2)|large_intestine(1)|lung(3)	6						AGAGGAAGCAGATAAAGCGGA	0.532																																						uc003qao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CAG>CAC		hypothetical protein LOC387103							93.0	83.0	86.0					6																	126661455		2203	4300	6503	SO:0001583	missense	387103					chromosome, centromeric region|nucleus	DNA binding	g.chr6:126661455G>C	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.36G>C	6.37:g.126661455G>C	ENSP00000357311:p.Gln12His					CENPW_uc003qap.3_RNA	p.Q12H	NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN			1	203	+			12					A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	c.36G>C	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558676	0.27827	.	.	ENSG00000203760	ENST00000368326;ENST00000368325;ENST00000368328	.	.	.	4.66	-1.87	0.07737	.	1.702360	0.03174	N	0.171096	T	0.10852	0.0265	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	8	0.30078	T	0.28	-13.2759	7.6932	0.28579	0.1809:0.5482:0.2708:0.0	.	12	Q5EE01	CENPW_HUMAN	H	12	.	ENSP00000357308:Q12H	Q	+	3	2	CENPW	126703148	0.000000	0.05858	0.000000	0.03702	0.383000	0.30230	-0.463000	0.06696	-0.365000	0.08076	0.563000	0.77884	CAG		PASS	0.532	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			82	59	82	59	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132198239	132198239	+	Missense_Mutation	SNP	C	C	A	rs79079368	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:132198239C>A	ENST00000360971.2	+	18	1851	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	611	Linker. {ECO:0000250}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|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)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.L559M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGTGCACCCCCTGGTACAGTG	0.463																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4	GRCh37	CM031971	ENPP1	M	rs79079368	c.(1831-1833)CTG>ATG		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						85.0	66.0	73.0					6																	132198239		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132198239C>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1831C>A	6.37:g.132198239C>A	ENSP00000354238:p.Leu611Met					ENPP1_uc003qcy.2_Missense_Mutation_p.L241M	p.L611M	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	18	1851	+	Breast(56;0.0505)		611			Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1831C>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933616	0.18206	.	.	ENSG00000197594	ENST00000360971	T	0.73469	-0.75	5.61	-0.628	0.11537	.	0.527792	0.18343	N	0.144102	T	0.35219	0.0924	L	0.31664	0.95	0.09310	N	1	B;B	0.18461	0.028;0.005	B;B	0.23018	0.043;0.013	T	0.31971	-0.9924	10	0.32370	T	0.25	0.0138	5.903	0.18978	0.1156:0.5415:0.0:0.3429	.	611;241	P22413;Q7Z3P5	ENPP1_HUMAN;.	M	611	ENSP00000354238:L611M	ENSP00000354238:L611M	L	+	1	2	ENPP1	132239932	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.025000	0.12413	-0.494000	0.06669	-0.252000	0.11476	CTG		PASS	0.463	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			16	117	16	117	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135769594	135769594	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:135769594T>C	ENST00000367800.4	-	10	1676	c.1460A>G	c.(1459-1461)aAt>aGt	p.N487S	AHI1_ENST00000327035.6_Missense_Mutation_p.N487S|AHI1_ENST00000457866.2_Missense_Mutation_p.N487S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	487					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.N487S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GATGTTTGCATTTCCATTGGC	0.348																																						uc003qgi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1459-1461)AAT>AGT		Abelson helper integration site 1 isoform a							102.0	98.0	99.0					6																	135769594		1850	4083	5933	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135769594T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1460A>G	6.37:g.135769594T>C	ENSP00000356774:p.Asn487Ser					AHI1_uc003qgg.2_5'UTR|AHI1_uc003qgh.2_Missense_Mutation_p.N487S|AHI1_uc003qgj.2_Missense_Mutation_p.N487S|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.N487S	p.N487S	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	12	1844	-	Breast(56;0.239)|Colorectal(23;0.24)		487					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.1460A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.132476	0.37630	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.57107	0.48;0.48;0.48;0.42	5.79	4.59	0.56863	.	0.113493	0.64402	D	0.000017	T	0.22003	0.0530	N	0.03608	-0.345	0.80722	D	1	D;P	0.56035	0.974;0.956	P;P	0.53861	0.736;0.549	T	0.04737	-1.0930	10	0.16420	T	0.52	-31.4423	8.5907	0.33686	0.3845:0.0:0.0:0.6155	.	487;487	Q8N157-2;Q8N157	.;AHI1_HUMAN	S	487	ENSP00000356774:N487S;ENSP00000388650:N487S;ENSP00000265602:N487S;ENSP00000322478:N487S	ENSP00000265602:N487S	N	-	2	0	AHI1	135811287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.433000	0.66520	2.205000	0.71048	0.477000	0.44152	AAT		PASS	0.348	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		24	200	24	200	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136934373	136934373	+	Missense_Mutation	SNP	C	C	T	rs114243010		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:136934373C>T	ENST00000359015.4	-	17	2660	c.2300G>A	c.(2299-2301)cGt>cAt	p.R767H	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R14H	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.R767H(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCATTTGGAACGAAGGAGAGC	0.318													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19810	0.0		0.0	False		,,,				2504	0.0					uc003qhc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(2299-2301)CGT>CAT		mitogen-activated protein kinase kinase kinase							95.0	90.0	91.0					6																	136934373		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136934373C>T	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2300G>A	6.37:g.136934373C>T	ENSP00000351908:p.Arg767His					MAP3K5_uc011edj.1_Missense_Mutation_p.R14H|MAP3K5_uc011edk.1_Missense_Mutation_p.R612H	p.R767H	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	17	2661	-	Colorectal(23;0.24)		767			Protein kinase.		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.2300G>A	CCDS5179.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	31	5.095372	0.94197	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.66460	-0.21;-0.21	5.67	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101256	0.64402	D	0.000003	T	0.68513	0.3009	L	0.42632	1.34	0.54753	D	0.999989	D;D	0.89917	1.0;0.992	D;P	0.71414	0.973;0.583	T	0.74321	-0.3703	10	0.87932	D	0	.	14.3819	0.66916	0.0:0.9289:0.0:0.0711	.	847;767	Q59GL6;Q99683	.;M3K5_HUMAN	H	767;14;847	ENSP00000351908:R767H;ENSP00000348104:R14H	ENSP00000348104:R14H	R	-	2	0	MAP3K5	136976066	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	1.392000	0.46585	0.655000	0.94253	CGT		PASS	0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			17	185	17	185	---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166923830	166923830	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:166923830C>T	ENST00000265678.4	-	4	537	c.314G>A	c.(313-315)aGa>aAa	p.R105K	RPS6KA2_ENST00000366863.2_5'UTR|MIR1913_ENST00000411026.1_RNA|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R113K|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R16K|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R16K|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R130K	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	105	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.R105K(1)|p.R113K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CATCTTCGATCTCACTCGGTC	0.398																																						uc003qvb.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(313-315)AGA>AAA		ribosomal protein S6 kinase, 90kDa, polypeptide							104.0	98.0	100.0					6																	166923830		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166923830C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.314G>A	6.37:g.166923830C>T	ENSP00000265678:p.Arg105Lys					RPS6KA2_uc011ego.1_Missense_Mutation_p.R16K|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R16K|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R113K|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R130K|MIR1913_hsa-mir-1913|MI0008334_5'Flank	p.R105K	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	4	533	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	105			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.314G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049342	0.75846	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000507350;ENST00000512860;ENST00000507371;ENST00000506565;ENST00000511034	T;T;T;T;T;T;T;T;T;D	0.83506	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-1.73	4.27	4.27	0.50696	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	U	0.000000	D	0.82628	0.5078	L	0.31845	0.965	0.80722	D	1	P;P;D	0.57257	0.931;0.835;0.979	P;P;D	0.74023	0.752;0.476;0.982	D	0.85404	0.1133	10	0.62326	D	0.03	.	14.1912	0.65639	0.0:1.0:0.0:0.0	.	130;113;105	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	K	105;130;113;16;16;16;16;89;130;16	ENSP00000265678:R105K;ENSP00000422435:R130K;ENSP00000427015:R113K;ENSP00000422484:R16K;ENSP00000386050:R16K;ENSP00000422197:R16K;ENSP00000427605:R16K;ENSP00000423114:R89K;ENSP00000425148:R130K;ENSP00000425458:R16K	ENSP00000265678:R105K	R	-	2	0	RPS6KA2	166843820	0.539000	0.26402	0.004000	0.12327	0.661000	0.39034	6.560000	0.73950	1.926000	0.55796	0.491000	0.48974	AGA		PASS	0.398	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		4	123	4	123	---	---	---	---
TTYH3	80727	broad.mit.edu	37	7	2686580	2686580	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:2686580C>T	ENST00000258796.7	+	2	422	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	TTYH3_ENST00000407643.1_Missense_Mutation_p.R73C|TTYH3_ENST00000403167.1_5'Flank	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	73					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.R73C(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGCCGGCGGCGCAAGAGCGA	0.711																																						uc003smp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)CGC>TGC		tweety 3							23.0	22.0	22.0					7																	2686580		2196	4293	6489	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2686580C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.217C>T	7.37:g.2686580C>T	ENSP00000258796:p.Arg73Cys					TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank	p.R73C	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	2	404	+		Ovarian(82;0.0112)	73			Cytoplasmic (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.217C>T	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502108	0.64298	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000400376	T;T;T	0.13901	2.55;2.55;2.55	4.96	4.05	0.47172	.	0.171092	0.49916	D	0.000131	T	0.35189	0.0923	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.08554	-1.0716	10	0.41790	T	0.15	.	14.1747	0.65534	0.1558:0.8442:0.0:0.0	.	73	Q9C0H2	TTYH3_HUMAN	C	73;73;80	ENSP00000258796:R73C;ENSP00000385316:R73C;ENSP00000383227:R80C	ENSP00000258796:R73C	R	+	1	0	TTYH3	2653106	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.272000	0.43373	1.015000	0.39444	0.561000	0.74099	CGC		PASS	0.711	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		4	17	4	17	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4116674	4116674	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:4116674C>T	ENST00000404826.2	+	21	3194	c.3055C>T	c.(3055-3057)Ctc>Ttc	p.L1019F	SDK1_ENST00000389531.3_Missense_Mutation_p.L1019F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1019	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L1019F(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGACTCTCGTCTCACGCACAC	0.572																																						uc003smx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(3055-3057)CTC>TTC		sidekick 1 precursor							157.0	120.0	132.0					7																	4116674		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4116674C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3055C>T	7.37:g.4116674C>T	ENSP00000385899:p.Leu1019Phe					SDK1_uc010kso.2_Missense_Mutation_p.L295F	p.L1019F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	21	3194	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1019			Fibronectin type-III 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3055C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	8.114	0.779482	0.16120	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57595	0.39;0.39	5.37	1.41	0.22369	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.211314	0.31809	N	0.007040	T	0.47432	0.1445	L	0.29908	0.895	0.09310	N	1	P;P	0.51537	0.696;0.946	B;P	0.49387	0.419;0.609	T	0.47649	-0.9101	10	0.62326	D	0.03	.	13.1659	0.59571	0.12:0.415:0.465:0.0	.	1019;1019	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	F	1019	ENSP00000385899:L1019F;ENSP00000374182:L1019F	ENSP00000374182:L1019F	L	+	1	0	SDK1	4083200	0.973000	0.33851	0.000000	0.03702	0.042000	0.13812	2.143000	0.42187	-0.023000	0.13963	0.650000	0.86243	CTC		PASS	0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		5	48	5	48	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18684299	18684299	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:18684299G>A	ENST00000432645.2	+	8	909	c.909G>A	c.(907-909)atG>atA	p.M303I	HDAC9_ENST00000401921.1_Missense_Mutation_p.M262I|HDAC9_ENST00000524023.1_Missense_Mutation_p.M226I|HDAC9_ENST00000406451.4_Missense_Mutation_p.M303I|HDAC9_ENST00000405010.3_Missense_Mutation_p.M303I|HDAC9_ENST00000456174.2_Missense_Mutation_p.M275I|HDAC9_ENST00000406072.1_Missense_Mutation_p.M290I|HDAC9_ENST00000428307.2_Missense_Mutation_p.M259I|HDAC9_ENST00000441542.2_Missense_Mutation_p.M306I|HDAC9_ENST00000417496.2_Missense_Mutation_p.M301I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	303	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.M306I(2)|p.M303I(1)|p.M301I(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AACAGCAAATGGTTTCACAGC	0.373																																						uc003suh.2																			4	Substitution - Missense(4)		lung(4)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(907-909)ATG>ATA		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						102.0	93.0	96.0					7																	18684299		1836	4083	5919	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18684299G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.909G>A	7.37:g.18684299G>A	ENSP00000410337:p.Met303Ile					HDAC9_uc003sue.2_Missense_Mutation_p.M303I|HDAC9_uc011jyd.1_Missense_Mutation_p.M303I|HDAC9_uc003sui.2_Missense_Mutation_p.M306I|HDAC9_uc003suj.2_Missense_Mutation_p.M262I|HDAC9_uc011jya.1_Missense_Mutation_p.M300I|HDAC9_uc003sua.1_Missense_Mutation_p.M281I|HDAC9_uc011jyb.1_Missense_Mutation_p.M259I|HDAC9_uc003sud.1_Missense_Mutation_p.M303I|HDAC9_uc011jyc.1_Missense_Mutation_p.M262I|HDAC9_uc003suf.1_Missense_Mutation_p.M334I|HDAC9_uc010kud.1_Missense_Mutation_p.M306I|HDAC9_uc011jye.1_Missense_Mutation_p.M275I|HDAC9_uc011jyf.1_Missense_Mutation_p.M226I|HDAC9_uc010kue.1_Missense_Mutation_p.M46I	p.M303I	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			8	950	+	all_lung(11;0.187)		303			Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.909G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291546	0.40494	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57752	0.94;0.95;0.38;0.95;0.95;0.38;0.38;0.38;0.95;0.95	5.74	2.82	0.32997	.	0.624796	0.16519	N	0.210902	T	0.40040	0.1101	L	0.29908	0.895	0.27522	N	0.951365	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.19706	0.0;0.003;0.0;0.011;0.0;0.0;0.002;0.038;0.015;0.007;0.002;0.015;0.005;0.009	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16289	0.0;0.002;0.0;0.005;0.0;0.0;0.001;0.015;0.005;0.003;0.002;0.005;0.004;0.004	T	0.15983	-1.0418	10	0.19590	T	0.45	-0.0787	14.8229	0.70087	0.0:0.0:0.6242:0.3758	.	226;275;303;290;301;303;306;262;306;303;275;303;303;281	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	I	301;304;303;303;259;290;262;303;306;275;226;303	ENSP00000401669:M301I;ENSP00000384382:M303I;ENSP00000384657:M303I;ENSP00000395655:M259I;ENSP00000384017:M290I;ENSP00000383912:M262I;ENSP00000410337:M303I;ENSP00000408617:M306I;ENSP00000388568:M275I;ENSP00000430036:M226I	ENSP00000262069:M304I	M	+	3	0	HDAC9	18650824	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.829000	0.48128	0.289000	0.22422	0.655000	0.94253	ATG		PASS	0.373	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			28	66	28	66	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23757152	23757152	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:23757152T>A	ENST00000355870.3	+	4	322	c.203T>A	c.(202-204)gTt>gAt	p.V68D	STK31_ENST00000433467.2_Missense_Mutation_p.V68D|STK31_ENST00000354639.3_Missense_Mutation_p.V45D|STK31_ENST00000428484.1_Missense_Mutation_p.V45D	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	68						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.V68D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGTCTGAAGTTTGCCCCCAG	0.353																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(202-204)GTT>GAT		serine/threonine kinase 31 isoform a							65.0	66.0	66.0					7																	23757152		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23757152T>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.203T>A	7.37:g.23757152T>A	ENSP00000348132:p.Val68Asp					STK31_uc003swt.3_Missense_Mutation_p.V45D|STK31_uc011jze.1_Missense_Mutation_p.V68D|STK31_uc010kuq.2_Missense_Mutation_p.V45D	p.V68D	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			4	270	+			68					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.203T>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236963	0.39498	.	.	ENSG00000196335	ENST00000355870;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000444333;ENST00000428484	T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91	5.23	4.07	0.47477	Maternal tudor protein (1);	0.521921	0.17825	N	0.160727	T	0.12178	0.0296	L	0.40543	1.245	0.44668	D	0.997652	P;P	0.50819	0.873;0.939	P;P	0.46629	0.522;0.522	T	0.02789	-1.1110	10	0.87932	D	0	-2.3484	7.6844	0.28532	0.0:0.1049:0.0:0.8951	.	68;68	B4DZ06;Q9BXU1	.;STK31_HUMAN	D	68;45;68;45;45;45	ENSP00000348132:V68D;ENSP00000389340:V45D;ENSP00000411852:V68D;ENSP00000346660:V45D;ENSP00000398413:V45D;ENSP00000406146:V45D	ENSP00000346660:V45D	V	+	2	0	STK31	23723677	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	2.244000	0.43124	0.823000	0.34589	0.383000	0.25322	GTT		PASS	0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		24	41	24	41	---	---	---	---
TAX1BP1	8887	broad.mit.edu	37	7	27833973	27833973	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:27833973C>T	ENST00000396319.2	+	11	1530	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.T481M|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.T324M|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.T481M|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T481M	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	481					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.T481M(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ACAAAGAAAACGGGGAATCAG	0.353																																						uc003szl.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1441-1443)ACG>ATG		Tax1 (human T-cell leukemia virus type I)							79.0	76.0	77.0					7																	27833973		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27833973C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1442C>T	7.37:g.27833973C>T	ENSP00000379612:p.Thr481Met					TAX1BP1_uc011jzo.1_Missense_Mutation_p.T481M|TAX1BP1_uc003szk.2_Missense_Mutation_p.T481M|TAX1BP1_uc011jzp.1_Missense_Mutation_p.T324M	p.T481M	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		11	1600	+			481			Potential.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1442C>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	C	4.463	0.085704	0.08583	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.32023	2.9;2.9;2.88;1.47;2.9	5.03	-0.49	0.12049	.	0.894418	0.09564	N	0.785199	T	0.13927	0.0337	N	0.08118	0	0.22552	N	0.998996	B;B;B	0.17465	0.012;0.009;0.022	B;B;B	0.15484	0.013;0.006;0.011	T	0.32851	-0.9891	10	0.22109	T	0.4	0.0516	7.7883	0.29106	0.0:0.5356:0.0:0.4644	.	324;481;481	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	M	481;481;481;324;481;36	ENSP00000444811:T481M;ENSP00000265393:T481M;ENSP00000386515:T481M;ENSP00000391907:T324M;ENSP00000379612:T481M	ENSP00000265393:T481M	T	+	2	0	TAX1BP1	27800498	0.001000	0.12720	0.321000	0.25320	0.341000	0.28922	-1.491000	0.02302	0.042000	0.15717	-1.222000	0.01597	ACG		PASS	0.353	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		18	79	18	79	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30492316	30492316	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:30492316G>A	ENST00000222823.4	-	6	1242	c.717C>T	c.(715-717)ttC>ttT	p.F239F	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	239	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.F239F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGAAGCAGCTGAACATGCGGC	0.597																																						uc003tav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(715-717)TTC>TTT		nucleotide-binding oligomerization domain							76.0	78.0	77.0					7																	30492316		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492316G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.717C>T	7.37:g.30492316G>A						NOD1_uc010kvs.2_Intron	p.F239F	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	1240	-			239			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.717C>T	CCDS5427.1																																																																																				PASS	0.597	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			46	103	46	103	---	---	---	---
NME8	51314	broad.mit.edu	37	7	37890021	37890021	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:37890021G>T	ENST00000199447.4	+	4	447	c.75G>T	c.(73-75)caG>caT	p.Q25H	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.Q25H	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	25	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.Q25H(1)									AGATGTTGCAGAACAAAGGCT	0.502																																						uc003tfn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(73-75)CAG>CAT		thioredoxin domain containing 3							153.0	152.0	152.0					7																	37890021		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37890021G>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.75G>T	7.37:g.37890021G>T	ENSP00000199447:p.Gln25His						p.Q25H	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			4	447	+			25			Thioredoxin.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.75G>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625058	0.46840	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.23552	1.9;1.9	5.12	2.17	0.27698	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.857574	0.10004	N	0.728019	T	0.41534	0.1163	M	0.72894	2.215	0.24834	N	0.992506	D	0.55800	0.973	P	0.59115	0.852	T	0.15009	-1.0452	10	0.41790	T	0.15	-0.5027	6.9963	0.24784	0.17:0.1458:0.6842:0.0	.	25	Q8N427	TXND3_HUMAN	H	25	ENSP00000199447:Q25H;ENSP00000397063:Q25H	ENSP00000199447:Q25H	Q	+	3	2	TXNDC3	37856546	1.000000	0.71417	0.999000	0.59377	0.517000	0.34286	1.491000	0.35583	1.170000	0.42753	0.561000	0.74099	CAG		PASS	0.502	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		91	188	91	188	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38431426	38431426	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:38431426G>T	ENST00000356264.2	-	19	2016	c.1801C>A	c.(1801-1803)Cca>Aca	p.P601T	AMPH_ENST00000325590.5_Missense_Mutation_p.P559T|AMPH_ENST00000428293.2_Missense_Mutation_p.P559T|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	601					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.P601T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCCATGGCTGGTGCAGAAGGC	0.597																																						uc003tgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(1801-1803)CCA>ACA		amphiphysin isoform 1							52.0	50.0	50.0					7																	38431426		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431426G>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1801C>A	7.37:g.38431426G>T	ENSP00000348602:p.Pro601Thr					AMPH_uc003tgv.2_Missense_Mutation_p.P559T|AMPH_uc003tgt.2_Missense_Mutation_p.P486T|AMPH_uc003tgw.1_Missense_Mutation_p.P624T|AMPH_uc010kxl.1_RNA	p.P601T	NM_001635	NP_001626	P49418	AMPH_HUMAN			19	1870	-			601					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1801C>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.088|0.088	-1.172673|-1.172673	0.01646|0.01646	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	T;T;T|.	0.60040|.	0.22;0.24;0.23|.	4.81|4.81	0.184|0.184	0.15086|0.15086	.|.	0.528419|.	0.15191|.	U|.	0.275570|.	T|T	0.21103|0.21103	0.0508|0.0508	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.33379|.	0.152;0.049;0.41|.	B;B;B|.	0.23275|.	0.036;0.026;0.045|.	T|T	0.27434|0.27434	-1.0074|-1.0074	10|5	0.10902|.	T|.	0.67|.	0.1252|0.1252	5.6965|5.6965	0.17859|0.17859	0.1779:0.3818:0.4403:0.0|0.1779:0.3818:0.4403:0.0	.|.	559;601;489|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	T|N	559;601;559;503|483	ENSP00000317441:P559T;ENSP00000348602:P601T;ENSP00000390734:P559T|.	ENSP00000317441:P559T|.	P|T	-|-	1|2	0|0	AMPH|AMPH	38397951|38397951	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.385000|0.385000	0.20685|0.20685	0.183000|0.183000	0.20059|0.20059	0.591000|0.591000	0.81541|0.81541	CCA|ACC		PASS	0.597	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		16	61	16	61	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43351583	43351583	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:43351583C>A	ENST00000395891.2	+	4	854	c.249C>A	c.(247-249)gtC>gtA	p.V83V	HECW1_ENST00000453890.1_Silent_p.V83V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	83					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V62V(1)|p.V83V(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGCTCATGGTCAGCAGCTCCT	0.612																																						uc003tid.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(247-249)GTC>GTA		NEDD4-like ubiquitin-protein ligase 1							69.0	77.0	74.0					7																	43351583		2133	4246	6379	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43351583C>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.249C>A	7.37:g.43351583C>A						HECW1_uc011kbi.1_Silent_p.V83V|HECW1_uc003tie.1_Silent_p.V115V	p.V83V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			4	854	+			83					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.249C>A	CCDS5469.2																																																																																				PASS	0.612	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		25	63	25	63	---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43918403	43918403	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:43918403G>A	ENST00000453200.1	-	6	1152	c.659C>T	c.(658-660)tCg>tTg	p.S220L	URGCP_ENST00000336086.6_Missense_Mutation_p.S177L|URGCP_ENST00000402306.3_Missense_Mutation_p.S211L|URGCP_ENST00000223341.7_Missense_Mutation_p.S177L|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.S177L|URGCP_ENST00000447717.3_Missense_Mutation_p.S177L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	220					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.S220L(1)|p.S177L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGTTCTCCGAGTCAGGCAA	0.572																																						uc003tiw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(658-660)TCG>TTG		up-regulated gene 4 isoform 3							38.0	42.0	41.0					7																	43918403		2060	4218	6278	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918403G>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.659C>T	7.37:g.43918403G>A	ENSP00000396918:p.Ser220Leu					URGCP_uc003tiu.2_Missense_Mutation_p.S177L|URGCP_uc003tiv.2_Missense_Mutation_p.S145L|URGCP_uc003tix.2_Missense_Mutation_p.S211L|URGCP_uc003tiy.2_Missense_Mutation_p.S177L|URGCP_uc003tiz.2_Missense_Mutation_p.S177L|URGCP_uc011kbj.1_Missense_Mutation_p.S177L	p.S220L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	716	-			220					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.659C>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180007	0.21787	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.09445	2.99;2.99;2.98;2.99;2.98;2.99	5.66	5.66	0.87406	.	0.805990	0.11230	N	0.585767	T	0.10078	0.0247	N	0.25647	0.755	0.34298	D	0.683982	P;P	0.51057	0.941;0.941	B;B	0.41174	0.349;0.349	T	0.16778	-1.0391	10	0.46703	T	0.11	-9.405	12.8981	0.58111	0.0:0.1634:0.8366:0.0	.	211;220	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	177;177;211;177;220;177	ENSP00000223341:S177L;ENSP00000336872:S177L;ENSP00000384955:S211L;ENSP00000392136:S177L;ENSP00000396918:S220L;ENSP00000402803:S177L	ENSP00000223341:S177L	S	-	2	0	URGCP	43884928	0.727000	0.28069	0.901000	0.35422	0.849000	0.48306	2.895000	0.48648	2.673000	0.90976	0.591000	0.81541	TCG		PASS	0.572	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		11	40	11	40	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48083169	48083169	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:48083169G>A	ENST00000348904.3	+	4	545	c.333G>A	c.(331-333)ccG>ccA	p.P111P	C7orf57_ENST00000430738.1_Silent_p.P156P|C7orf57_ENST00000420324.1_Silent_p.P156P|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Silent_p.P111P	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	111								p.P111P(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GCAAGCCACCGACAGCCAGCC	0.423																																						uc003toh.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(331-333)CCG>CCA		hypothetical protein LOC136288							62.0	67.0	66.0					7																	48083169		1941	4155	6096	SO:0001819	synonymous_variant	136288							g.chr7:48083169G>A	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.333G>A	7.37:g.48083169G>A						C7orf57_uc003toi.3_5'UTR	p.P111P	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			4	545	+			111					C9JBJ8	Silent	SNP	ENST00000348904.3	37	c.333G>A	CCDS47583.1																																																																																				PASS	0.423	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		5	18	5	18	---	---	---	---
ASL	435	broad.mit.edu	37	7	65554683	65554683	+	Splice_Site	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:65554683G>T	ENST00000304874.9	+	14	1164		c.e14+1		ASL_ENST00000395331.3_Splice_Site|ASL_ENST00000395332.3_Splice_Site|AC068533.7_ENST00000450043.1_Splice_Site|ASL_ENST00000464970.1_Splice_Site|ASL_ENST00000380839.4_Splice_Site	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase						arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.?(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACGCTGCAGGCAAGACATCA	0.632																																						uc003tuo.2																			1	Unknown(1)		lung(1)	breast(2)	2						c.e14+1		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						92.0	60.0	71.0					7																	65554683		2203	4300	6503	SO:0001630	splice_region_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65554683G>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1062+1G>T	7.37:g.65554683G>T						ASL_uc003tup.2_Splice_Site_p.Q354_splice|ASL_uc003tur.2_Splice_Site_p.Q328_splice|ASL_uc003tuq.2_Splice_Site_p.Q334_splice	p.Q354_splice	NM_000048	NP_000039	P04424	ARLY_HUMAN			14	1173	+								E7EMI0|E9PE48|Q6LDS5|Q96HS2	Splice_Site	SNP	ENST00000304874.9	37	c.1062_splice	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121339	0.77436	.	.	ENSG00000126522;ENSG00000126522;ENSG00000126522;ENSG00000126522;ENSG00000249319	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331;ENST00000450043	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5452	0.87859	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC068533.7;ASL	65192118	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.019000	0.88732	2.386000	0.81285	0.555000	0.69702	.		PASS	0.632	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048	Intron	6	27	6	27	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71177092	71177092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:71177092C>A	ENST00000333538.5	+	11	2392	c.1758C>A	c.(1756-1758)tgC>tgA	p.C586*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	586	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.C586*(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGCAGCTGCACAGGTCAGA	0.632																																						uc003tvy.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1756-1758)TGC>TGA		UDP-GalNAc:polypeptide							72.0	70.0	71.0					7																	71177092		2203	4300	6503	SO:0001587	stop_gained	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71177092C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1758C>A	7.37:g.71177092C>A	ENSP00000329654:p.Cys586*					WBSCR17_uc003tvz.2_Nonsense_Mutation_p.C285*	p.C586*	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			11	1758	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	586			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Nonsense_Mutation	SNP	ENST00000333538.5	37	c.1758C>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	43	10.236024	0.99366	.	.	ENSG00000185274	ENST00000333538	.	.	.	4.98	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2242	0.31560	0.0:0.8169:0.0:0.1831	.	.	.	.	X	586	.	ENSP00000329654:C586X	C	+	3	2	WBSCR17	70815028	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.598000	0.36740	1.069000	0.40788	0.563000	0.77884	TGC		PASS	0.632	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		29	122	29	122	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81350087	81350087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:81350087C>T	ENST00000222390.5	-	10	1471	c.1245G>A	c.(1243-1245)tgG>tgA	p.W415*	HGF_ENST00000457544.2_Nonsense_Mutation_p.W410*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	415	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.W415*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGTTCTTGTCCCACATTGAAC	0.333																																						uc003uhl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1243-1245)TGG>TGA		hepatocyte growth factor isoform 1							129.0	116.0	121.0					7																	81350087		2203	4300	6503	SO:0001587	stop_gained	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81350087C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1245G>A	7.37:g.81350087C>T	ENSP00000222390:p.Trp415*					HGF_uc003uhm.2_Nonsense_Mutation_p.W410*	p.W415*	NM_000601	NP_000592	P14210	HGF_HUMAN			10	1410	-			415			Kringle 4.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	c.1245G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	37	6.264935	0.97426	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0349	0.89298	0.0:1.0:0.0:0.0	.	.	.	.	X	415;410	.	ENSP00000222390:W415X	W	-	3	0	HGF	81188023	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.989000	0.70587	2.252000	0.74401	0.491000	0.48974	TGG		PASS	0.333	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		27	65	27	65	---	---	---	---
CROT	54677	broad.mit.edu	37	7	86998748	86998748	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:86998748G>T	ENST00000331536.3	+	7	789	c.604G>T	c.(604-606)Gtc>Ttc	p.V202F	CROT_ENST00000419147.2_Missense_Mutation_p.V230F|CROT_ENST00000442291.1_Missense_Mutation_p.V202F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	202					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.V202F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCGAGCTTTTGTCTTTGATGT	0.433																																						uc003uit.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(604-606)GTC>TTC		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						221.0	206.0	211.0					7																	86998748		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86998748G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.604G>T	7.37:g.86998748G>T	ENSP00000331981:p.Val202Phe					CROT_uc003uiu.2_Missense_Mutation_p.V230F	p.V202F	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			7	849	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		202					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.604G>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802421	0.70682	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90069	-2.61;-2.61;-2.61	5.1	3.25	0.37280	.	0.301014	0.36519	N	0.002556	D	0.89897	0.6848	M	0.84326	2.69	0.31757	N	0.633822	P;P	0.49961	0.629;0.93	B;P	0.49421	0.332;0.61	D	0.87944	0.2719	10	0.35671	T	0.21	-0.2465	7.0605	0.25123	0.1496:0.143:0.7074:0.0	.	230;202	E7EQF2;Q9UKG9	.;OCTC_HUMAN	F	230;202;202	ENSP00000413575:V230F;ENSP00000331981:V202F;ENSP00000411983:V202F	ENSP00000331981:V202F	V	+	1	0	CROT	86836684	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.158000	0.42329	0.800000	0.34041	0.585000	0.79938	GTC		PASS	0.433	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		39	232	39	232	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87170770	87170770	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:87170770C>A	ENST00000265724.3	-	19	2639	c.2222G>T	c.(2221-2223)aGa>aTa	p.R741I	ABCB1_ENST00000543898.1_Missense_Mutation_p.R677I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	741	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R741I(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATCATCAATTCTTGTAAAAAC	0.358																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2221-2223)AGA>ATA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						93.0	96.0	95.0					7																	87170770		2202	4300	6502	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87170770C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2222G>T	7.37:g.87170770C>A	ENSP00000265724:p.Arg741Ile					ABCB1_uc011khc.1_Missense_Mutation_p.R677I	p.R741I	NM_000927	NP_000918	P08183	MDR1_HUMAN			19	2640	-	Esophageal squamous(14;0.00164)		741			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2222G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301636	0.10678	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.87179	-2.19;-2.22	5.65	-2.11	0.07187	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.178280	0.05912	N	0.631831	T	0.69851	0.3157	N	0.03608	-0.345	0.19945	N	0.99994	B;B	0.31705	0.025;0.336	B;B	0.32583	0.003;0.148	T	0.61212	-0.7108	10	0.37606	T	0.19	-3.6354	5.9744	0.19371	0.0:0.3192:0.2367:0.4441	.	677;741	B5AK60;P08183	.;MDR1_HUMAN	I	522;741;677	ENSP00000265724:R741I;ENSP00000444095:R677I	ENSP00000265724:R741I	R	-	2	0	ABCB1	87008706	0.000000	0.05858	0.038000	0.18304	0.106000	0.19336	-1.054000	0.03496	-0.086000	0.12550	-0.136000	0.14681	AGA		PASS	0.358	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		23	132	23	132	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87737555	87737555	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:87737555C>T	ENST00000265727.7	+	5	534	c.455C>T	c.(454-456)tCa>tTa	p.S152L	ADAM22_ENST00000398201.4_Missense_Mutation_p.S152L|ADAM22_ENST00000398209.3_Missense_Mutation_p.S152L|ADAM22_ENST00000315984.7_Missense_Mutation_p.S152L|ADAM22_ENST00000439864.1_Missense_Mutation_p.S152L|ADAM22_ENST00000398204.4_Missense_Mutation_p.S152L			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	152					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S152L(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTTGCATTGTCAACATGCCAC	0.348																																						uc003ujn.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(454-456)TCA>TTA		ADAM metallopeptidase domain 22 isoform 1							92.0	87.0	89.0					7																	87737555		1958	4151	6109	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87737555C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.455C>T	7.37:g.87737555C>T	ENSP00000265727:p.Ser152Leu					ADAM22_uc003uji.1_Missense_Mutation_p.S151L|ADAM22_uc003ujj.1_Missense_Mutation_p.S152L|ADAM22_uc003ujk.1_Missense_Mutation_p.S152L|ADAM22_uc003ujl.1_Missense_Mutation_p.S152L|ADAM22_uc003ujm.2_Missense_Mutation_p.S152L|ADAM22_uc003ujo.2_Missense_Mutation_p.S152L|ADAM22_uc003ujp.1_Missense_Mutation_p.S204L	p.S152L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	534	+	Esophageal squamous(14;0.00202)		152					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.455C>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848723	0.91277	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.87	5.87	0.94306	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.992;0.982;0.992;0.999;0.999;0.997	T	0.56944	-0.7895	10	0.87932	D	0	.	19.3531	0.94398	0.0:1.0:0.0:0.0	.	204;152;152;152;152;152	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	L	152;152;169;152;152;152;152;119	ENSP00000381262:S152L;ENSP00000391334:S152L;ENSP00000413899:S169L;ENSP00000381260:S152L;ENSP00000265727:S152L;ENSP00000315900:S152L;ENSP00000381267:S152L;ENSP00000381261:S119L	ENSP00000265727:S152L	S	+	2	0	ADAM22	87575491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.002000	0.70693	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.348	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		16	83	16	83	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963235	88963235	+	Silent	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:88963235A>C	ENST00000333190.4	+	4	1548	c.939A>C	c.(937-939)acA>acC	p.T313T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	313							metal ion binding (GO:0046872)	p.T313T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGATGAGACACTAGAAGATT	0.343										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(937-939)ACA>ACC		zinc finger protein 804B							47.0	48.0	48.0					7																	88963235		2203	4298	6501	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963235A>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.939A>C	7.37:g.88963235A>C		HNSCC(36;0.09)					p.T313T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1477	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		313					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.939A>C	CCDS5613.1																																																																																				PASS	0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		20	76	20	76	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92978023	92978023	+	Splice_Site	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:92978023G>A	ENST00000305866.5	+	24	2336	c.2208G>A	c.(2206-2208)ttG>ttA	p.L736L	CCDC132_ENST00000541136.1_Splice_Site_p.L547L|CCDC132_ENST00000544910.1_Splice_Site_p.L706L|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Splice_Site_p.L456L	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	736						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L736L(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCCCTTTAGGGTATTCTTGG	0.393																																						uc003umo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2206-2208)TTG>TTA		coiled-coil domain containing 132 isoform a							135.0	129.0	131.0					7																	92978023		1875	4107	5982	SO:0001630	splice_region_variant	55610							g.chr7:92978023G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2208-1G>A	7.37:g.92978023G>A						CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.L706L|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Silent_p.L456L	p.L736L	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		24	2336	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		736					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.2208G>A	CCDS43617.1																																																																																				PASS	0.393	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	Silent	23	127	23	127	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92983001	92983001	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:92983001G>T	ENST00000305866.5	+	26	2641	c.2513G>T	c.(2512-2514)cGc>cTc	p.R838L	CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.R808L|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.R558L	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	838						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R838L(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGAGAGTTCGCATACCCTTG	0.348																																						uc003umo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2512-2514)CGC>CTC		coiled-coil domain containing 132 isoform a							177.0	169.0	171.0					7																	92983001		1857	4090	5947	SO:0001583	missense	55610							g.chr7:92983001G>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2513G>T	7.37:g.92983001G>T	ENSP00000307666:p.Arg838Leu					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.R808L|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.R558L	p.R838L	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		26	2641	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		838					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2513G>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711464	0.68730	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.52	5.52	0.82312	Protein of unknown function DUF2451, C-terminal (1);	0.057729	0.64402	D	0.000001	T	0.62245	0.2412	N	0.16130	0.375	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.994	D;D;D	0.81914	0.995;0.992;0.988	T	0.60510	-0.7249	9	0.27082	T	0.32	-4.9696	19.8283	0.96626	0.0:0.0:1.0:0.0	.	558;808;838	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	L	838;808;558	.	ENSP00000307666:R838L	R	+	2	0	CCDC132	92820937	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.668000	0.98619	2.772000	0.95346	0.650000	0.86243	CGC		PASS	0.348	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		45	193	45	193	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93101770	93101770	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:93101770C>A	ENST00000394441.1	-	5	661	c.346G>T	c.(346-348)Ggt>Tgt	p.G116C	CALCR_ENST00000359558.2_Missense_Mutation_p.G134C|CALCR_ENST00000421592.1_Missense_Mutation_p.G116C|CALCR_ENST00000360249.4_Missense_Mutation_p.G116C|CALCR_ENST00000426151.1_Missense_Mutation_p.G116C	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	134					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.G116C(1)|p.G134C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	AACCAAACACCTTTTTCATCA	0.323																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(400-402)GGT>TGT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						164.0	147.0	153.0					7																	93101770		2203	4299	6502	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93101770C>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.346G>T	7.37:g.93101770C>A	ENSP00000377959:p.Gly116Cys					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.G116C|CALCR_uc003umw.2_Missense_Mutation_p.G116C	p.G134C	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		6	661	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		116			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.400G>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929488	0.73327	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.55	5.55	0.83447	.	.	.	.	.	D	0.97511	0.9185	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98671	1.0688	9	0.87932	D	0	.	18.6568	0.91456	0.0:1.0:0.0:0.0	.	134;116	F5H605;A4D1G6	.;.	C	134;116;116;116;116;116	ENSP00000352561:G134C;ENSP00000353385:G116C;ENSP00000399552:G116C;ENSP00000377959:G116C;ENSP00000389295:G116C	ENSP00000352561:G134C	G	-	1	0	CALCR	92939706	1.000000	0.71417	0.373000	0.26003	0.084000	0.17831	5.463000	0.66712	2.780000	0.95670	0.655000	0.94253	GGT		PASS	0.323	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		36	127	36	127	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107824691	107824691	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:107824691C>T	ENST00000425651.2	-	19	2297	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	NRCAM_ENST00000379024.4_Silent_p.T747T|NRCAM_ENST00000413765.2_Silent_p.T747T|NRCAM_ENST00000351718.4_Silent_p.T750T|NRCAM_ENST00000379022.4_Silent_p.T766T|NRCAM_ENST00000379028.3_Silent_p.T766T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	766	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.T750T(1)|p.T766T(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCACCTTCCACGTAATCACCA	0.378																																						uc003vfb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)	5						c.(2296-2298)ACG>ACA		neuronal cell adhesion molecule isoform A							85.0	72.0	77.0					7																	107824691		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107824691C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2298G>A	7.37:g.107824691C>T						NRCAM_uc003vfc.2_Silent_p.T750T|NRCAM_uc011kmk.1_Silent_p.T761T|NRCAM_uc003vfd.2_Silent_p.T742T|NRCAM_uc003vfe.2_Silent_p.T742T	p.T766T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			22	2769	-			766			Fibronectin type-III 2.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.2298G>A	CCDS47686.1																																																																																				PASS	0.378	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		23	116	23	116	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955210	116955210	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:116955210G>A	ENST00000265441.3	-	3	802	c.503C>T	c.(502-504)gCc>gTc	p.A168V	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	168					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A168V(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AAATGCGCGGGCAAATTTGAT	0.473																																						uc003viz.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(502-504)GCC>GTC		wingless-type MMTV integration site family							144.0	131.0	135.0					7																	116955210		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955210G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.503C>T	7.37:g.116955210G>A	ENSP00000265441:p.Ala168Val					WNT2_uc003vja.2_Missense_Mutation_p.A72V	p.A168V	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	803	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		168					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.503C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808210	0.70797	.	.	ENSG00000105989	ENST00000265441	T	0.77098	-1.07	5.65	4.77	0.60923	.	0.100394	0.64402	D	0.000002	T	0.81669	0.4871	M	0.69463	2.115	0.44587	D	0.997554	P;P	0.37636	0.603;0.603	P;P	0.44673	0.457;0.457	D	0.83855	0.0265	10	0.87932	D	0	.	17.0511	0.86519	0.0:0.127:0.873:0.0	.	168;168	A4D0V1;P09544	.;WNT2_HUMAN	V	168	ENSP00000265441:A168V	ENSP00000265441:A168V	A	-	2	0	WNT2	116742446	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.321000	0.72881	1.516000	0.48900	0.655000	0.94253	GCC		PASS	0.473	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		43	139	43	139	---	---	---	---
RNF148	378925	broad.mit.edu	37	7	122342406	122342406	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:122342406T>A	ENST00000434824.1	-	1	615	c.399A>T	c.(397-399)caA>caT	p.Q133H	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	133	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q133H(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TGCCCGTACCTTGATAGTTGT	0.473																																						uc003vkk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(397-399)CAA>CAT		ring finger protein 148 precursor							282.0	274.0	277.0					7																	122342406		2000	4175	6175	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342406T>A	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.399A>T	7.37:g.122342406T>A	ENSP00000388207:p.Gln133His					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron	p.Q133H	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	616	-			133			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.399A>T	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866086	0.32977	.	.	ENSG00000235631	ENST00000434824	T	0.08008	3.14	4.95	1.25	0.21368	Protease-associated domain, PA (1);	.	.	.	.	T	0.06690	0.0171	L	0.34521	1.04	0.80722	D	1	B	0.29162	0.235	B	0.29176	0.099	T	0.35574	-0.9783	9	0.35671	T	0.21	.	8.9096	0.35546	0.0:0.2409:0.0:0.7591	.	133	Q8N7C7	RN148_HUMAN	H	133	ENSP00000388207:Q133H	ENSP00000388207:Q133H	Q	-	3	2	RNF148	122129642	0.981000	0.34729	1.000000	0.80357	0.875000	0.50365	0.003000	0.13083	0.332000	0.23536	0.454000	0.30748	CAA		PASS	0.473	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		217	351	217	351	---	---	---	---
MKRN1	23608	broad.mit.edu	37	7	140159596	140159596	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:140159596C>T	ENST00000255977.2	-	3	679	c.455G>A	c.(454-456)aGa>aAa	p.R152K	MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000474576.1_Missense_Mutation_p.R88K|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.R152K|MKRN1_ENST00000480552.1_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	152					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R152K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GTTTGAATTTCTTGACTCAGC	0.453																																						uc003vvt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)AGA>AAA		makorin ring finger protein 1 isoform 1							116.0	110.0	112.0					7																	140159596		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140159596C>T	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.455G>A	7.37:g.140159596C>T	ENSP00000255977:p.Arg152Lys					MKRN1_uc003vvs.2_Missense_Mutation_p.R88K|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Missense_Mutation_p.R152K|MKRN1_uc003vvu.3_Missense_Mutation_p.R88K	p.R152K	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			3	680	-	Melanoma(164;0.00956)		152					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.455G>A	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862363	0.32884	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104;ENST00000467513;ENST00000494939	T;T;T;D;T;T	0.85629	3.01;2.32;2.6;-2.01;1.95;1.97	4.67	2.76	0.32466	.	0.489617	0.19256	N	0.118795	T	0.69450	0.3112	L	0.40543	1.245	0.22762	N	0.998762	B	0.22080	0.064	B	0.18263	0.021	T	0.52366	-0.8585	10	0.06365	T	0.9	.	1.0817	0.01644	0.2303:0.387:0.2236:0.1591	.	152	Q9UHC7	MKRN1_HUMAN	K	152;88;88;152;88;88;88	ENSP00000255977:R152K;ENSP00000417863:R88K;ENSP00000416369:R152K;ENSP00000418864:R88K;ENSP00000418588:R88K;ENSP00000419843:R88K	ENSP00000255977:R152K	R	-	2	0	MKRN1	139806065	0.429000	0.25530	0.553000	0.28255	0.909000	0.53808	0.917000	0.28665	2.421000	0.82119	0.455000	0.32223	AGA		PASS	0.453	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		41	140	41	140	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147092721	147092721	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:147092721A>T	ENST00000361727.3	+	10	2035	c.1519A>T	c.(1519-1521)Aac>Tac	p.N507Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	507	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.N507Y(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGATGAATAACTCAAGTCA	0.398										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1519-1521)AAC>TAC		cell recognition molecule Caspr2 precursor							169.0	160.0	163.0					7																	147092721		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092721A>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1519A>T	7.37:g.147092721A>T	ENSP00000354778:p.Asn507Tyr	HNSCC(39;0.1)					p.N507Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2035	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	507			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1519A>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894183	0.33442	.	.	ENSG00000174469	ENST00000361727	T	0.77750	-1.12	5.26	4.12	0.48240	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.536625	0.18107	N	0.151494	T	0.51719	0.1691	N	0.03608	-0.345	0.80722	D	1	B	0.18610	0.029	B	0.20384	0.029	T	0.53236	-0.8467	10	0.56958	D	0.05	.	3.0876	0.06283	0.657:0.0:0.1544:0.1886	.	507	Q9UHC6	CNTP2_HUMAN	Y	507	ENSP00000354778:N507Y	ENSP00000354778:N507Y	N	+	1	0	CNTNAP2	146723654	0.998000	0.40836	0.888000	0.34837	0.995000	0.86356	2.354000	0.44098	2.000000	0.58554	0.477000	0.44152	AAC		PASS	0.398	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			110	211	110	211	---	---	---	---
GIMAP6	474344	broad.mit.edu	37	7	150327164	150327164	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr7:150327164C>T	ENST00000328902.5	-	2	283	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	GIMAP6_ENST00000493969.1_Missense_Mutation_p.V23M	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	23						cytosol (GO:0005829)	GTP binding (GO:0005525)	p.V23M(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTCCAGCACAGGATCCTGG	0.453																																						uc003whn.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(67-69)GTG>ATG		GTPase, IMAP family member 6							183.0	186.0	185.0					7																	150327164		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150327164C>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.67G>A	7.37:g.150327164C>T	ENSP00000330374:p.Val23Met					GIMAP6_uc003whm.2_Silent_p.L17L	p.V23M	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	491	-			23					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.67G>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	c	3.297	-0.143630	0.06627	.	.	ENSG00000133561	ENST00000328902;ENST00000477013;ENST00000493969	T	0.06068	3.35	3.04	-4.94	0.03057	.	.	.	.	.	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	1	B	0.33637	0.42	B	0.26094	0.066	T	0.42085	-0.9472	9	0.33940	T	0.23	.	4.8935	0.13738	0.1792:0.496:0.0:0.3248	.	23	Q6P9H5	GIMA6_HUMAN	M	23	ENSP00000330374:V23M	ENSP00000330374:V23M	V	-	1	0	GIMAP6	149958097	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.210000	0.09345	-0.920000	0.03799	-1.052000	0.02337	GTG		PASS	0.453	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		11	359	11	359	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37697643	37697643	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:37697643G>A	ENST00000412232.2	+	17	2529	c.2516G>A	c.(2515-2517)gGc>gAc	p.G839D	GPR124_ENST00000315215.7_Missense_Mutation_p.G622D	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	839					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G832D(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCGCAGGTGGGCATCACCCTG	0.652																																						uc003xkj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(1)	5						c.(2515-2517)GGC>GAC		G protein-coupled receptor 124 precursor							57.0	50.0	53.0					8																	37697643		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697643G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2516G>A	8.37:g.37697643G>A	ENSP00000406367:p.Gly839Asp					GPR124_uc010lvy.2_Missense_Mutation_p.G622D	p.G839D	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		17	2879	+			839			Helical; Name=3; (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2516G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753025	0.89753	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.42900	0.96;0.96	3.95	3.95	0.45737	GPCR, family 2-like (1);	0.120048	0.56097	D	0.000028	T	0.70378	0.3217	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.954	T	0.79429	-0.1807	10	0.87932	D	0	-27.2494	16.5429	0.84406	0.0:0.0:1.0:0.0	.	622;839	Q96PE1-2;Q96PE1	.;GP124_HUMAN	D	832;622;839	ENSP00000323508:G622D;ENSP00000406367:G839D	ENSP00000323508:G622D	G	+	2	0	GPR124	37816801	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.621000	0.83083	2.192000	0.70111	0.655000	0.94253	GGC		PASS	0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	299	5	299	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38133958	38133958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:38133958G>A	ENST00000317025.8	-	23	4445	c.3928C>T	c.(3928-3930)Cga>Tga	p.R1310*	WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.R1299*|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.R1261*|RP11-513D5.5_ENST00000529325.1_RNA	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1310					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R1310*(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGATCTTTCGTCTCTTCTGT	0.403			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(3928-3930)CGA>TGA		WHSC1L1 protein isoform long							218.0	200.0	206.0					8																	38133958		1956	4154	6110	SO:0001587	stop_gained	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38133958G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3928C>T	8.37:g.38133958G>A	ENSP00000313983:p.Arg1310*					WHSC1L1_uc011lbm.1_Nonsense_Mutation_p.R1299*|WHSC1L1_uc010lwe.2_Nonsense_Mutation_p.R1261*|WHSC1L1_uc003xlh.2_Nonsense_Mutation_p.R89*	p.R1310*	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		23	4446	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1310					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	c.3928C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	46	12.867007	0.99702	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.63	5.63	0.86233	.	0.000000	0.42053	U	0.000767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3095	0.74019	0.0:0.0:0.8596:0.1404	.	.	.	.	X	1261;1310;1247;1299	.	ENSP00000313983:R1310X	R	-	1	2	WHSC1L1	38253115	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.631000	0.67812	2.669000	0.90835	0.591000	0.81541	CGA		PASS	0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		20	312	20	312	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55539409	55539409	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:55539409G>T	ENST00000220676.1	+	4	3115	c.2967G>T	c.(2965-2967)gaG>gaT	p.E989D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	989					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.E989D(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATGTAAAGAGGGAGATAAGT	0.368																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(2965-2967)GAG>GAT		retinitis pigmentosa RP1 protein							146.0	157.0	153.0					8																	55539409		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539409G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2967G>T	8.37:g.55539409G>T	ENSP00000220676:p.Glu989Asp					RP1_uc011ldy.1_Intron	p.E989D	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3115	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	989						Missense_Mutation	SNP	ENST00000220676.1	37	c.2967G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195425	0.09599	.	.	ENSG00000104237	ENST00000220676	T	0.51071	0.72	4.86	0.893	0.19236	.	1.111380	0.06769	N	0.783180	T	0.33904	0.0879	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.36065	-0.9763	10	0.72032	D	0.01	.	0.9294	0.01331	0.3076:0.2782:0.2717:0.1425	.	989	P56715	RP1_HUMAN	D	989	ENSP00000220676:E989D	ENSP00000220676:E989D	E	+	3	2	RP1	55701962	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.204000	0.09425	-0.020000	0.14032	0.655000	0.94253	GAG		PASS	0.368	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		51	232	51	232	---	---	---	---
ARMC1	55156	broad.mit.edu	37	8	66525598	66525598	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:66525598C>T	ENST00000276569.3	-	4	590	c.346G>A	c.(346-348)Gca>Aca	p.A116T	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	116					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.A116T(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TCACCATCTGCCATATTGGAG	0.363																																						uc003xvl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(346-348)GCA>ACA		armadillo repeat-containing protein							138.0	131.0	133.0					8																	66525598		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66525598C>T	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.346G>A	8.37:g.66525598C>T	ENSP00000276569:p.Ala116Thr					ARMC1_uc011leo.1_Intron	p.A116T	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		4	581	-			116					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.346G>A	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136860	0.56936	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T	0.43294	0.95;0.95	6.02	5.15	0.70609	.	0.205916	0.52532	D	0.000079	T	0.33818	0.0876	L	0.50333	1.59	0.80722	D	1	B	0.24258	0.1	B	0.18561	0.022	T	0.11717	-1.0576	10	0.16420	T	0.52	.	10.2641	0.43445	0.1643:0.7644:0.0:0.0712	.	116	Q9NVT9	ARMC1_HUMAN	T	116	ENSP00000276569:A116T;ENSP00000429191:A116T	ENSP00000276569:A116T	A	-	1	0	ARMC1	66688152	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.785000	0.62418	1.561000	0.49584	0.655000	0.94253	GCA		PASS	0.363	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		65	131	65	131	---	---	---	---
SBSPON	157869	broad.mit.edu	37	8	73979670	73979670	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:73979670G>A	ENST00000297354.6	-	5	905	c.701C>T	c.(700-702)gCa>gTa	p.A234V	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	234					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A229V(1)									ATTACCAATTGCTTGCCAATG	0.378																																						uc003xzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GCA>GTA		RPE-spondin precursor							103.0	98.0	99.0					8																	73979670		1840	4095	5935	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73979670G>A		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.701C>T	8.37:g.73979670G>A	ENSP00000297354:p.Ala234Val						p.A234V	NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN			5	906	-			234					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.701C>T	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	G	35	5.564290	0.96527	.	.	ENSG00000164764	ENST00000297354	T	0.25085	1.82	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60637	-0.7224	10	0.87932	D	0	-4.3442	20.1224	0.97967	0.0:0.0:1.0:0.0	.	234	Q8IVN8	RPESP_HUMAN	V	234	ENSP00000297354:A234V	ENSP00000297354:A234V	A	-	2	0	C8orf84	74142224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.293000	0.89932	2.846000	0.97976	0.644000	0.83932	GCA		PASS	0.378	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		51	91	51	91	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77764043	77764043	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:77764043G>T	ENST00000521891.2	+	10	5334	c.4886G>T	c.(4885-4887)aGt>aTt	p.S1629I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1584I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1584I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1603I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1584					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.S1629I(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)			CTGGAGCCCAGTGGTCATGTG	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.(4750-4752)AGT>ATT		zinc finger homeodomain 4							54.0	52.0	53.0					8																	77764043		1932	4131	6063	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764043G>T		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.4886G>T	8.37:g.77764043G>T	ENSP00000430497:p.Ser1629Ile	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S1629I|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1584I	p.S1584I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5138	+			1584					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4751G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874886	0.17395	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51817	0.69;0.75;0.71;0.7	4.4	4.4	0.53042	.	0.000000	0.52532	U	0.000074	T	0.53417	0.1795	L	0.43152	1.355	0.41522	D	0.988401	P;P;P	0.39883	0.567;0.693;0.693	B;P;P	0.48738	0.332;0.588;0.533	T	0.59252	-0.7489	10	0.66056	D	0.02	.	17.5228	0.87792	0.0:0.0:1.0:0.0	.	1584;1584;1629	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	1629;1629;1584;1584;1603	ENSP00000430497:S1629I;ENSP00000399605:S1584I;ENSP00000050961:S1584I;ENSP00000430848:S1603I	ENSP00000050961:S1584I	S	+	2	0	ZFHX4	77926598	1.000000	0.71417	0.006000	0.13384	0.323000	0.28346	7.566000	0.82347	2.450000	0.82876	0.542000	0.68232	AGT		PASS	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		41	57	41	57	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767662	77767663	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:77767662_77767663GG>TT	ENST00000521891.2	+	10	8953_8954	c.8505_8506GG>TT	c.(8503-8508)ccGGct>ccTTct	p.A2836S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2791S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2791S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2810S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2791					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.A2820S(2)|p.P2819P(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)			ATGTGAAACCGGCTTTGTCTCC	0.49										HNSCC(33;0.089)																												uc003yav.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8368-8370)CCG>CCT|c.(8371-8373)GCT>TCT		zinc finger homeodomain 4																																				SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767662G>T|g.chr8:77767663G>T		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	Exception_encountered	8.37:g.77767662_77767663delinsTT	ENSP00000430497:p.Ala2836Ser	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P2835P|ZFHX4_uc003yaw.1_Silent_p.P2790P|ZFHX4_uc003yau.1_Missense_Mutation_p.A2836S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2791S	p.P2790P|p.A2791S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8757|8758	+			2790|2791					G3V138|Q18PS0|Q6ZN20	Silent|Missense_Mutation	SNP	ENST00000521891.2	37	c.8370G>T|c.8371G>T	CCDS47878.2																																																																																				PASS	0.490	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	50	5	50	---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91029541	91029541	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:91029541G>T	ENST00000220764.2	+	2	347	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L	DECR1_ENST00000522161.1_Missense_Mutation_p.V78L|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	87					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.V87L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGCTCAGTGCGTGATAGCCAG	0.468																																						uc003yek.1																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)GTG>TTG		2,4-dienoyl CoA reductase 1 precursor							66.0	70.0	69.0					8																	91029541		2203	4300	6503	SO:0001583	missense	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91029541G>T	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.259G>T	8.37:g.91029541G>T	ENSP00000220764:p.Val87Leu					DECR1_uc011lgc.1_Missense_Mutation_p.V78L|DECR1_uc011lgd.1_Intron	p.V87L	NM_001359	NP_001350	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		2	400	+			87			NADP.		B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	c.259G>T	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663641	0.88251	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.89681	0.97;-2.55;0.97;-2.55;-2.55	5.88	5.88	0.94601	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90796	0.7110	M	0.76574	2.34	0.80722	D	1	P;B	0.45474	0.859;0.315	B;B	0.43680	0.427;0.222	D	0.91279	0.5050	10	0.62326	D	0.03	.	20.2163	0.98298	0.0:0.0:1.0:0.0	.	78;87	B7Z6B8;Q16698	.;DECR_HUMAN	L	87;65;78;78;37	ENSP00000220764:V87L;ENSP00000430561:V65L;ENSP00000429779:V78L;ENSP00000427936:V78L;ENSP00000429096:V37L	ENSP00000220764:V87L	V	+	1	0	DECR1	91098717	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.380000	0.73158	2.784000	0.95788	0.655000	0.94253	GTG		PASS	0.468	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			11	53	11	53	---	---	---	---
CDH17	1015	broad.mit.edu	37	8	95186469	95186469	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:95186469G>A	ENST00000027335.3	-	6	568	c.444C>T	c.(442-444)gtC>gtT	p.V148V	CDH17_ENST00000450165.2_Silent_p.V148V|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	148	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.V148V(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTGTGGCATTGACATACAAGA	0.403																																						uc003ygh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(442-444)GTC>GTT		cadherin 17 precursor							147.0	148.0	148.0					8																	95186469		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95186469G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.444C>T	8.37:g.95186469G>A						CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.V148V	p.V148V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		6	569	-	Breast(36;4.65e-06)		148			Extracellular (Potential).|Cadherin 2.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.444C>T	CCDS6260.1																																																																																				PASS	0.403	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		46	173	46	173	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103298627	103298627	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:103298627C>A	ENST00000520539.1	-	38	5782	c.5176G>T	c.(5176-5178)Gca>Tca	p.A1726S	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.A1726S|UBR5_ENST00000521922.1_Missense_Mutation_p.A1720S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1726					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.A1726S(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTACTGGCTGCTCGCTGATGC	0.468																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(5176-5178)GCA>TCA		ubiquitin protein ligase E3 component n-recognin							80.0	71.0	74.0					8																	103298627		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103298627C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5176G>T	8.37:g.103298627C>A	ENSP00000429084:p.Ala1726Ser					UBR5_uc003yks.1_Missense_Mutation_p.A1726S	p.A1726S	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5209	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1726					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5176G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	6.183	0.401858	0.11696	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.42131	0.98;0.98;0.98	5.86	4.8	0.61643	.	0.124291	0.52532	D	0.000065	T	0.14700	0.0355	N	0.01352	-0.895	0.43199	D	0.995045	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20371	-1.0277	10	0.12103	T	0.63	.	10.4553	0.44546	0.0:0.8561:0.0:0.1439	.	1720;1726	E7EMW7;O95071	.;UBR5_HUMAN	S	1726;1726;1720	ENSP00000429084:A1726S;ENSP00000220959:A1726S;ENSP00000427819:A1720S	ENSP00000220959:A1726S	A	-	1	0	UBR5	103367803	0.960000	0.32886	1.000000	0.80357	0.997000	0.91878	1.947000	0.40293	2.774000	0.95407	0.655000	0.94253	GCA		PASS	0.468	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		13	21	13	21	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104778588	104778588	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:104778588A>C	ENST00000406091.3	+	3	521	c.521A>C	c.(520-522)gAg>gCg	p.E174A		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	205	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.E174A(1)|p.E210A(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAAATGAGGAGGCACCTCAG	0.443										HNSCC(12;0.0054)																												uc003ylp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(520-522)GAG>GCG		regulating synaptic membrane exocytosis 2							130.0	126.0	127.0					8																	104778588		1898	4119	6017	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104778588A>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.521A>C	8.37:g.104778588A>C	ENSP00000384892:p.Glu174Ala	HNSCC(12;0.0054)					p.E174A	NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	660	+			205					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	c.521A>C	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986471	0.53934	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.36157	1.27;1.27	5.14	5.14	0.70334	.	.	.	.	.	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12656	-1.0539	9	0.33940	T	0.23	.	15.2489	0.73529	1.0:0.0:0.0:0.0	.	174	F8WD47	.	A	174;205;174;205	ENSP00000427018:E174A;ENSP00000384892:E174A	ENSP00000332184:E205A	E	+	2	0	RIMS2	104847764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.917000	0.75782	2.072000	0.62099	0.459000	0.35465	GAG		PASS	0.443	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		34	57	34	57	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110416808	110416808	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:110416808G>A	ENST00000378402.5	+	15	1503	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	467					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E469K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTGCTGCAGGAGTACAGATT	0.308										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(1399-1401)GAG>AAG		fibrocystin L precursor							95.0	89.0	91.0					8																	110416808		1858	4102	5960	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110416808G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1399G>A	8.37:g.110416808G>A	ENSP00000367655:p.Glu467Lys	HNSCC(38;0.096)					p.E467K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		15	1503	+			467			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1399G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760415	0.69763	.	.	ENSG00000205038	ENST00000378402	T	0.79247	-1.25	5.45	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	L	0.31065	0.9	0.36861	D	0.888396	P	0.49635	0.926	P	0.47891	0.56	T	0.76263	-0.3023	10	0.49607	T	0.09	.	11.6782	0.51442	0.0:0.1785:0.8215:0.0	.	467	Q86WI1	PKHL1_HUMAN	K	467	ENSP00000367655:E467K	ENSP00000367655:E467K	E	+	1	0	PKHD1L1	110485984	1.000000	0.71417	0.952000	0.39060	0.623000	0.37688	4.483000	0.60264	2.716000	0.92895	0.650000	0.86243	GAG		PASS	0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		13	25	13	25	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113318350	113318350	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:113318350G>T	ENST00000297405.5	-	51	8201	c.7957C>A	c.(7957-7959)Cga>Aga	p.R2653R	CSMD3_ENST00000352409.3_Silent_p.R2583R|CSMD3_ENST00000343508.3_Silent_p.R2613R|CSMD3_ENST00000455883.2_Silent_p.R2549R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2653	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2613R(1)|p.R2653R(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						TAGGTAACTCGCGTTCCTACC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(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.(7957-7959)CGA>AGA		CUB and Sushi multiple domains 3 isoform 1							157.0	141.0	147.0					8																	113318350		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113318350G>T	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.7957C>A	8.37:g.113318350G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.R1855R|CSMD3_uc003ynt.2_Silent_p.R2613R|CSMD3_uc011lhx.1_Silent_p.R2549R	p.R2653R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8116	-			2653			Extracellular (Potential).|Sushi 15.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7957C>A	CCDS6315.1																																																																																				PASS	0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		61	80	61	80	---	---	---	---
SAMD12	401474	broad.mit.edu	37	8	119391882	119391882	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:119391882T>C	ENST00000314727.4	-	4	516	c.380A>G	c.(379-381)gAg>gGg	p.E127G	SAMD12_ENST00000409003.4_Missense_Mutation_p.E127G|SAMD12_ENST00000527515.1_5'Flank|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	127	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.E127G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CCGGAGGTTCTCCTGGGCAAT	0.478																																						uc003yom.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)GAG>GGG		sterile alpha motif domain containing 12 isoform							144.0	129.0	134.0					8																	119391882		2203	4300	6503	SO:0001583	missense	401474							g.chr8:119391882T>C	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.380A>G	8.37:g.119391882T>C	ENSP00000314173:p.Glu127Gly					SAMD12_uc010mda.1_Missense_Mutation_p.E127G|SAMD12_uc010mdb.1_RNA	p.E127G	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		4	509	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		127			SAM.		Q0P502	Missense_Mutation	SNP	ENST00000314727.4	37	c.380A>G	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.192763|5.192763	0.94960|0.94960	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000526765	T;T;T;T|.	0.19532|.	2.14;2.14;2.14;2.14|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70613|0.70613	0.3244|0.3244	L|L	0.55834|0.55834	1.745|1.745	0.54753|0.54753	D|D	0.999988|0.999988	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.992;1.0|.	T|T	0.67829|0.67829	-0.5569|-0.5569	9|5	.|.	.|.	.|.	-27.2277|-27.2277	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	127;127|.	B8ZZB7;Q8N8I0|.	.;SAM12_HUMAN|.	G|G	127;119;127;127|142	ENSP00000387133:E127G;ENSP00000435927:E119G;ENSP00000314173:E127G;ENSP00000431360:E127G|.	.|.	E|R	-|-	2|1	0|2	SAMD12|SAMD12	119461063|119461063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.698000|7.698000	0.84413|0.84413	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAG|AGA		PASS	0.478	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		65	98	65	98	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	124978246	124978246	+	Splice_Site	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:124978246G>T	ENST00000522917.1	+	4	403		c.e4-1		FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)		p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTTTAATAGATCAAAACTG	0.358																																						uc003yqw.2																			1	Unknown(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.e4-1		fer-1-like 6							49.0	49.0	49.0					8																	124978246		1889	4107	5996	SO:0001630	splice_region_variant	654463					integral to membrane		g.chr8:124978246G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.198-1G>T	8.37:g.124978246G>T							p.R66_splice	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		4	404	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)								Splice_Site	SNP	ENST00000522917.1	37	c.198_splice	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484261	0.26598	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5511	0.87875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125047427	1.000000	0.71417	0.995000	0.50966	0.217000	0.24651	7.948000	0.87774	2.656000	0.90262	0.563000	0.77884	.		PASS	0.358	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	Intron	10	30	10	30	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133141514	133141514	+	Missense_Mutation	SNP	T	T	G	rs199682667		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:133141514T>G	ENST00000388996.4	-	15	3034	c.2614A>C	c.(2614-2616)Att>Ctt	p.I872L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.I752L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.I860L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	872					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.I872L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTCTTTTAAATGGGCTTATTG	0.527																																						uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2614-2616)ATT>CTT		potassium voltage-gated channel KQT-like protein							69.0	59.0	62.0					8																	133141514		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141514T>G	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2614A>C	8.37:g.133141514T>G	ENSP00000373648:p.Ile872Leu					KCNQ3_uc010mdt.2_Missense_Mutation_p.I860L|uc003yti.2_5'Flank	p.I872L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2839	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		872					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2614A>C	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	7.261	0.605275	0.14002	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98926	-5.22;-5.19;-5.24	5.36	-5.5	0.02576	.	1.779520	0.02660	N	0.107373	D	0.94042	0.8091	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	D	0.89889	0.4036	10	0.56958	D	0.05	.	6.7776	0.23628	0.2319:0.492:0.0:0.2761	.	860;872	E7ET42;O43525	.;KCNQ3_HUMAN	L	872;752;860;849;751	ENSP00000373648:I872L;ENSP00000429799:I752L;ENSP00000428790:I860L	ENSP00000373648:I872L	I	-	1	0	KCNQ3	133210696	0.037000	0.19845	0.010000	0.14722	0.044000	0.14063	-0.205000	0.09411	-0.909000	0.03852	-0.441000	0.05720	ATT		PASS	0.527	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		13	44	13	44	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133146582	133146582	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:133146582G>A	ENST00000388996.4	-	13	2174	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F	KCNQ3_ENST00000521134.1_Missense_Mutation_p.S465F|KCNQ3_ENST00000519445.1_Missense_Mutation_p.S585F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	585					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S585F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCCTTTCTGAGACTTCTTGTG	0.483																																						uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1753-1755)TCT>TTT		potassium voltage-gated channel KQT-like protein							173.0	159.0	164.0					8																	133146582		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133146582G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1754C>T	8.37:g.133146582G>A	ENSP00000373648:p.Ser585Phe					KCNQ3_uc010mdt.2_Missense_Mutation_p.S585F	p.S585F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		13	1979	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		585					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1754C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695097	0.48202	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99709	-6.48;-6.48;-6.48	5.66	3.84	0.44239	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.546859	0.20504	N	0.091023	D	0.98498	0.9499	L	0.43152	1.355	0.42295	D	0.992151	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	D	0.99899	1.1156	10	0.54805	T	0.06	-15.4757	9.4096	0.38482	0.0742:0.0:0.7807:0.1451	.	585;585	E7ET42;O43525	.;KCNQ3_HUMAN	F	585;465;585;574;464	ENSP00000373648:S585F;ENSP00000429799:S465F;ENSP00000428790:S585F	ENSP00000373648:S585F	S	-	2	0	KCNQ3	133215764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.737000	0.68606	1.375000	0.46248	0.655000	0.94253	TCT		PASS	0.483	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		32	121	32	121	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133855011	133855011	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr8:133855011G>C	ENST00000395386.2	+	19	2938	c.2639G>C	c.(2638-2640)gGg>gCg	p.G880A	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.G855A|PHF20L1_ENST00000220847.7_Missense_Mutation_p.G267A|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	880							zinc ion binding (GO:0008270)	p.G854A(1)|p.G880A(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCAGACCCTGGGAGCTCAGAT	0.393																																						uc003ytt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2638-2640)GGG>GCG		PHD finger protein 20-like 1 isoform 1							96.0	92.0	93.0					8																	133855011		1870	4119	5989	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133855011G>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2639G>C	8.37:g.133855011G>C	ENSP00000378784:p.Gly880Ala					PHF20L1_uc011lja.1_Missense_Mutation_p.G854A	p.G880A	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		19	2964	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		880					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2639G>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642522	0.29246	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.35605	1.31;1.3	5.41	4.44	0.53790	.	0.681907	0.13290	U	0.399037	T	0.22742	0.0549	N	0.17082	0.46	0.24971	N	0.991669	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.05099	-1.0906	10	0.36615	T	0.2	-28.6362	9.5574	0.39348	0.0:0.1205:0.6844:0.1951	.	855;880	F8W9L8;A8MW92	.;P20L1_HUMAN	A	880;267;855	ENSP00000378784:G880A;ENSP00000378788:G855A	ENSP00000220847:G267A	G	+	2	0	PHF20L1	133924193	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.147000	0.31602	2.539000	0.85634	0.650000	0.86243	GGG		PASS	0.393	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		30	109	30	109	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14737563	14737563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:14737563C>T	ENST00000380880.3	-	37	7154	c.6371G>A	c.(6370-6372)tGg>tAg	p.W2124*	FREM1_ENST00000380894.1_Nonsense_Mutation_p.W660*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.W2124*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.W2125*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2124	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.W2125*(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GATCCACTCCCAGTGGCCAGC	0.448																																						uc003zlm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(6370-6372)TGG>TAG		FRAS1 related extracellular matrix 1 precursor							34.0	36.0	35.0					9																	14737563		1943	4141	6084	SO:0001587	stop_gained	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14737563C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6371G>A	9.37:g.14737563C>T	ENSP00000370262:p.Trp2124*					FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Nonsense_Mutation_p.W660*	p.W2124*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	37	6961	-			2124			C-type lectin.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	37	c.6371G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	50	17.025707	0.99877	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.389	15.7729	0.78184	0.1369:0.8631:0.0:0.0	.	.	.	.	X	2125;2124;660;2124	.	ENSP00000370262:W2124X	W	-	2	0	FREM1	14727563	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	5.103000	0.64578	2.777000	0.95525	0.591000	0.81541	TGG		PASS	0.448	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		7	14	7	14	---	---	---	---
UBE2R2	54926	broad.mit.edu	37	9	33900199	33900199	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:33900199C>T	ENST00000263228.3	+	3	483	c.292C>T	c.(292-294)Cat>Tat	p.H98Y		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	98					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.H98Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TTCGATTCTTCATCCGCCTGT	0.403																																						uc003ztm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CAT>TAT		ubiquitin-conjugating enzyme UBC3B							154.0	145.0	148.0					9																	33900199		2203	4300	6503	SO:0001583	missense	54926				protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity	g.chr9:33900199C>T	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.292C>T	9.37:g.33900199C>T	ENSP00000263228:p.His98Tyr						p.H98Y	NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)	3	866	+			98					D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	c.292C>T	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174874	0.94807	.	.	ENSG00000107341	ENST00000263228	T	0.38240	1.15	5.73	5.73	0.89815	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.85462	2.755	0.80722	D	1	D	0.71674	0.998	P	0.57057	0.812	T	0.67852	-0.5563	10	0.87932	D	0	-12.1031	19.5015	0.95097	0.0:1.0:0.0:0.0	.	98	Q712K3	UB2R2_HUMAN	Y	98	ENSP00000263228:H98Y	ENSP00000263228:H98Y	H	+	1	0	UBE2R2	33890199	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.359000	0.79477	2.702000	0.92279	0.650000	0.86243	CAT		PASS	0.403	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		126	66	126	66	---	---	---	---
KLF9	687	broad.mit.edu	37	9	73028180	73028180	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:73028180C>G	ENST00000377126.2	-	1	1360	c.100G>C	c.(100-102)Gag>Cag	p.E34Q		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	34					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E34Q(1)		endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CGCAGCCGCTCGGCGTCCGGA	0.647																																						uc004aht.2																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)GAG>CAG		Kruppel-like factor 9							31.0	28.0	29.0					9																	73028180		2202	4299	6501	SO:0001583	missense	687				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:73028180C>G	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.100G>C	9.37:g.73028180C>G	ENSP00000366330:p.Glu34Gln						p.E34Q	NM_001206	NP_001197	Q13886	KLF9_HUMAN			1	1394	-			34					B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	c.100G>C	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613664	0.28712	.	.	ENSG00000119138	ENST00000377126	T	0.04809	3.55	4.64	4.64	0.57946	.	0.088634	0.46442	D	0.000290	T	0.03348	0.0097	N	0.19112	0.55	0.23602	N	0.997312	B	0.23377	0.084	B	0.12837	0.008	T	0.44605	-0.9317	10	0.16420	T	0.52	.	10.7185	0.46026	0.0:0.9064:0.0:0.0936	.	34	Q13886	KLF9_HUMAN	Q	34	ENSP00000366330:E34Q	ENSP00000366330:E34Q	E	-	1	0	KLF9	72218000	1.000000	0.71417	0.999000	0.59377	0.750000	0.42670	2.364000	0.44187	2.138000	0.66242	0.557000	0.71058	GAG		PASS	0.647	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		19	37	19	37	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75431061	75431061	+	Silent	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:75431061T>C	ENST00000297784.5	+	19	2238	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	TMC1_ENST00000340019.3_Silent_p.P566P|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.P566P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	566					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.P566P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCTCTAGCCTTCATACACCG	0.458																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1696-1698)CCT>CCC		transmembrane channel-like 1							203.0	153.0	170.0					9																	75431061		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75431061T>C	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1698T>C	9.37:g.75431061T>C						TMC1_uc010moz.1_Silent_p.P524P|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.P420P|TMC1_uc010mpa.1_Silent_p.P420P	p.P566P	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			19	2238	+			566			Cytoplasmic (Potential).		A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.1698T>C	CCDS6643.1																																																																																				PASS	0.458	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			69	112	69	112	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377111	77377111	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:77377111C>G	ENST00000360774.1	-	26	4713	c.4476G>C	c.(4474-4476)aaG>aaC	p.K1492N	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.K1487N|TRPM6_ENST00000449912.2_Missense_Mutation_p.K1487N|TRPM6_ENST00000451710.3_Missense_Mutation_p.K1492N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.K1492N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1492					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.K1492N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTGGGCCTGCTTCTGGTGCT	0.498																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4474-4476)AAG>AAC		transient receptor potential cation channel,							133.0	119.0	124.0					9																	77377111		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377111C>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4476G>C	9.37:g.77377111C>G	ENSP00000354006:p.Lys1492Asn					TRPM6_uc004ajk.1_Missense_Mutation_p.K1487N|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.K448N	p.K1492N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4714	-			1492			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4476G>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125963	0.20959	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.54866	0.65;0.65;0.65;0.65;0.55	5.33	-2.37	0.06643	.	1.600640	0.03157	N	0.168848	T	0.34279	0.0892	N	0.24115	0.695	0.09310	N	1	B;B;B	0.20671	0.001;0.047;0.001	B;B;B	0.18871	0.001;0.023;0.001	T	0.09684	-1.0663	10	0.33940	T	0.23	.	2.7177	0.05192	0.1551:0.3113:0.3398:0.1938	.	1492;1487;1487	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	N	1492;1492;1487;1487;1492	ENSP00000354006:K1492N;ENSP00000407341:K1492N;ENSP00000396672:K1487N;ENSP00000354962:K1487N;ENSP00000366060:K1492N	ENSP00000354006:K1492N	K	-	3	2	TRPM6	76566931	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.323000	0.02692	-0.345000	0.08325	-0.857000	0.03018	AAG		PASS	0.498	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		66	119	66	119	---	---	---	---
ZNF169	169841	broad.mit.edu	37	9	97054700	97054700	+	Silent	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:97054700C>G	ENST00000395395.2	+	3	201	c.111C>G	c.(109-111)acC>acG	p.T37T	ZNF169_ENST00000480716.1_Silent_p.T37T|ZNF169_ENST00000375354.4_Silent_p.T37T|ZNF169_ENST00000481550.2_Silent_p.T37T|ZNF169_ENST00000340911.4_Silent_p.T37T	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	37	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.T37T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTCAGAGGACCCTGTACAGGG	0.522																																						uc004aum.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(109-111)ACC>ACG		zinc finger protein 169							150.0	137.0	141.0					9																	97054700		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97054700C>G	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.111C>G	9.37:g.97054700C>G						ZNF169_uc004aun.2_Silent_p.T37T|ZNF169_uc004auo.2_Silent_p.T37T	p.T37T	NM_194320	NP_919301	Q14929	ZN169_HUMAN			3	216	+		Acute lymphoblastic leukemia(62;0.136)	37			KRAB.		A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.111C>G	CCDS6709.2																																																																																				PASS	0.522	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		41	101	41	101	---	---	---	---
ANP32B	10541	broad.mit.edu	37	9	100756944	100756944	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:100756944C>G	ENST00000339399.4	+	2	281	c.86C>G	c.(85-87)tCa>tGa	p.S29*	ANP32B_ENST00000473205.1_3'UTR	NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	29					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)	p.S29*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				AATTGCAAATCAAATGATGGA	0.358																																						uc004aya.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(85-87)TCA>TGA		acidic (leucine-rich) nuclear phosphoprotein 32							73.0	72.0	73.0					9																	100756944		2203	4300	6503	SO:0001587	stop_gained	10541					cytoplasm|nucleus		g.chr9:100756944C>G	Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"""ANP32 acidic nuclear phosphoproteins"""	16677	protein-coding gene	gene with protein product	"""acidic protein rich in leucines"""					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.86C>G	9.37:g.100756944C>G	ENSP00000345848:p.Ser29*						p.S29*	NM_006401	NP_006392	Q92688	AN32B_HUMAN			2	435	+		Acute lymphoblastic leukemia(62;0.0559)	29			LRR 1.		B2R9C7|O00655|P78458|P78459	Nonsense_Mutation	SNP	ENST00000339399.4	37	c.86C>G	CCDS6732.1	.	.	.	.	.	.	.	.	.	.	C	38	6.925628	0.97940	.	.	ENSG00000136938	ENST00000339399	.	.	.	5.52	5.52	0.82312	.	0.132513	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-3.7961	18.6016	0.91249	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000345848:S29X	S	+	2	0	ANP32B	99796765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.773000	0.95371	0.655000	0.94253	TCA		PASS	0.358	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053346.4	NM_006401		65	110	65	110	---	---	---	---
ALDOB	229	broad.mit.edu	37	9	104193079	104193079	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:104193079G>T	ENST00000374855.4	-	2	215	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	31					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.L31M(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCTGCAGCCAGGATCCCCTTT	0.433																																						uc004bbk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(91-93)CTG>ATG		aldolase B, fructose-bisphosphate							112.0	97.0	102.0					9																	104193079		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104193079G>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.91C>A	9.37:g.104193079G>T	ENSP00000363988:p.Leu31Met						p.L31M	NM_000035	NP_000026	P05062	ALDOB_HUMAN			2	173	-		Acute lymphoblastic leukemia(62;0.0559)	31					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.91C>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743040	0.69418	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.91295	-2.82	5.63	4.74	0.60224	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.93939	3.475	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.96627	0.9464	10	0.87932	D	0	-14.25	11.9083	0.52725	0.145:0.0:0.855:0.0	.	31	P05062	ALDOB_HUMAN	M	31	ENSP00000363988:L31M	ENSP00000363988:L31M	L	-	1	2	ALDOB	103232900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.849000	0.62882	1.529000	0.49120	0.655000	0.94253	CTG		PASS	0.433	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			26	75	26	75	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109686536	109686536	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:109686536C>A	ENST00000277225.5	+	3	632	c.343C>A	c.(343-345)Cgc>Agc	p.R115S	ZNF462_ENST00000457913.1_Missense_Mutation_p.R115S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	115					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R115S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTCTGTGTACGCTACTTCAG	0.473																																						uc004bcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(343-345)CGC>AGC		zinc finger protein 462							87.0	82.0	84.0					9																	109686536		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109686536C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.343C>A	9.37:g.109686536C>A	ENSP00000277225:p.Arg115Ser					ZNF462_uc010mto.2_5'UTR|ZNF462_uc004bda.2_5'UTR	p.R115S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	632	+			115			C2H2-type 2.		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.343C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336299	0.60963	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.09817	2.94;3.41	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00254	-1.1874	9	.	.	.	.	19.525	0.95201	0.0:1.0:0.0:0.0	.	115	Q96JM2	ZN462_HUMAN	S	115	ENSP00000277225:R115S;ENSP00000414570:R115S	.	R	+	1	0	ZNF462	108726357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.628000	0.89032	0.467000	0.42956	CGC		PASS	0.473	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		44	103	44	103	---	---	---	---
C9orf91	203197	broad.mit.edu	37	9	117400949	117400949	+	Silent	SNP	C	C	T	rs554808792		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:117400949C>T	ENST00000288502.4	+	8	1229	c.792C>T	c.(790-792)aaC>aaT	p.N264N	C9orf91_ENST00000374049.4_Silent_p.N265N			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	264						integral component of membrane (GO:0016021)		p.N264N(1)		endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						CTTGTCCTAACGAGAGGCCAC	0.592																																						uc004bjd.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(790-792)AAC>AAT		hypothetical protein LOC203197							96.0	82.0	86.0					9																	117400949		2203	4300	6503	SO:0001819	synonymous_variant	203197					integral to membrane		g.chr9:117400949C>T	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.792C>T	9.37:g.117400949C>T						C9orf91_uc004bje.3_Silent_p.N243N|C9orf91_uc004bjf.3_Silent_p.N163N	p.N264N	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN			8	1009	+			264					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	ENST00000288502.4	37	c.792C>T	CCDS6808.1																																																																																				PASS	0.592	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		20	109	20	109	---	---	---	---
TRIM32	22954	broad.mit.edu	37	9	119460833	119460833	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:119460833G>A	ENST00000450136.1	+	2	973	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R271Q	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	271					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|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 cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R271Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCTTGCCTCGGGAGCTCACC	0.552																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(811-813)CGG>CAG		tripartite motif-containing 32							51.0	43.0	46.0					9																	119460833		2203	4300	6503	SO:0001583	missense	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460833G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.812G>A	9.37:g.119460833G>A	ENSP00000408292:p.Arg271Gln					ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R271Q	p.R271Q	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	970	+			271					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.812G>A	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	2.205	-0.382003	0.04966	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.81330	-1.48;-1.48	5.36	4.26	0.50523	.	0.449469	0.19152	N	0.121439	T	0.62233	0.2411	N	0.14661	0.345	0.21950	N	0.999458	B	0.09022	0.002	B	0.04013	0.001	T	0.43245	-0.9403	9	.	.	.	-7.7488	8.3489	0.32290	0.1364:0.1469:0.7167:0.0	.	271	Q13049	TRI32_HUMAN	Q	271	ENSP00000408292:R271Q;ENSP00000363095:R271Q	.	R	+	2	0	TRIM32	118500654	0.981000	0.34729	1.000000	0.80357	0.981000	0.71138	2.315000	0.43752	2.486000	0.83907	0.655000	0.94253	CGG		PASS	0.552	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		23	56	23	56	---	---	---	---
SWI5	375757	broad.mit.edu	37	9	131048234	131048234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:131048234G>T	ENST00000320188.5	+	4	565	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	SWI5_ENST00000495313.1_Nonsense_Mutation_p.E93*|SWI5_ENST00000419867.2_Nonsense_Mutation_p.E124*|SWI5_ENST00000608796.1_Nonsense_Mutation_p.E124*|SWI5_ENST00000418976.1_Nonsense_Mutation_p.E84*	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	189					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.E189*(1)									CAGTGTGGATGAACTGGAGGA	0.512																																						uc004bup.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(565-567)GAA>TAA		hypothetical protein LOC375757							112.0	109.0	110.0					9																	131048234		2049	4203	6252	SO:0001587	stop_gained	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131048234G>T	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.565G>T	9.37:g.131048234G>T	ENSP00000316609:p.Glu189*					C9orf119_uc010mxx.1_Nonsense_Mutation_p.E189*	p.E189*	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN			4	565	+			189					Q5SYX7|Q5SYX8|Q8N2W6	Nonsense_Mutation	SNP	ENST00000320188.5	37	c.565G>T	CCDS43883.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.2|21.2|21.2	4.113428|4.113428|4.113428	0.77210|0.77210|0.77210	.|.|.	.|.|.	ENSG00000175854|ENSG00000175854|ENSG00000175854	ENST00000320188|ENST00000495313;ENST00000372898|ENST00000418976	.|.|.	.|.|.	.|.|.	4.79|4.79|4.79	4.79|4.79|4.79	0.61399|0.61399|0.61399	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.65790|.	.|0.2725|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.70831|.	.|-0.4765|.	.|3|.	0.59425|.|.	D|.|.	0.04|.|.	.|.|.	14.9132|14.9132|14.9132	0.70773|0.70773|0.70773	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|L	189|102;98|116	.|.|.	ENSP00000316609:E189X|.|.	E|M|X	+|+|+	1|3|2	0|0|2	SWI5|SWI5|SWI5	130088055|130088055|130088055	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	5.719000|5.719000|5.719000	0.68462|0.68462|0.68462	2.359000|2.359000|2.359000	0.80004|0.80004|0.80004	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GAA|ATG|TGA		PASS	0.512	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		16	35	16	35	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139353940	139353940	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:139353940G>A	ENST00000371706.3	-	14	4758	c.4725C>T	c.(4723-4725)taC>taT	p.Y1575Y	SEC16A_ENST00000431893.2_Silent_p.Y1575Y|SEC16A_ENST00000290037.6_Silent_p.Y1575Y|SEC16A_ENST00000313050.7_Silent_p.Y1753Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1575					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y1753Y(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTTCTTCGTGTAAACACCAA	0.493																																						uc004chx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(5257-5259)TAC>TAT		SEC16 homolog A							75.0	70.0	71.0					9																	139353940		1929	4120	6049	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139353940G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4725C>T	9.37:g.139353940G>A						SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Silent_p.Y1143Y|SEC16A_uc004chw.2_Silent_p.Y1753Y|SEC16A_uc010nbn.2_Silent_p.Y1753Y	p.Y1753Y	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	16	5568	-		Myeloproliferative disorder(178;0.0511)	1575					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.5259C>T																																																																																					PASS	0.493	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		10	24	10	24	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139391559	139391559	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:139391559G>C	ENST00000277541.6	-	34	6707	c.6632C>G	c.(6631-6633)tCa>tGa	p.S2211*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2211					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K2182fs*61(1)|p.S2163_T2283del(1)|p.S2212*(1)|p.S2211*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACGTCTGACAGGTAGCC	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Substitution - Nonsense(2)|Deletion - Frameshift(1)|Deletion - In frame(1)		haematopoietic_and_lymphoid_tissue(2)|lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(6631-6633)TCA>TGA		notch1 preproprotein							36.0	44.0	41.0					9																	139391559		2176	4258	6434	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391559G>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6632C>G	9.37:g.139391559G>C	ENSP00000277541:p.Ser2211*	HNSCC(8;0.001)					p.S2211*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6632	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2211			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.6632C>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	45	11.724631	0.99596	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.4279	0.90615	0.0:0.0:1.0:0.0	.	.	.	.	X	2211	.	ENSP00000277541:S2211X	S	-	2	0	NOTCH1	138511380	1.000000	0.71417	0.969000	0.41365	0.258000	0.26162	9.556000	0.98127	2.772000	0.95346	0.655000	0.94253	TCA		PASS	0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		25	43	25	43	---	---	---	---
NELFB	25920	broad.mit.edu	37	9	140146913	140146913	+	5'Flank	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:140146913A>C	ENST00000343053.4	+	0	0				C9orf173_ENST00000388931.3_Missense_Mutation_p.Q143P|C9orf173_ENST00000412566.1_Missense_Mutation_p.Q143P	NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q143P(1)									AGGGCATGGCAGACTTTGTGG	0.627																																						uc004cmk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(424-426)CAG>CCG		SubName: Full=LOC441476 protein;							33.0	38.0	36.0					9																	140146913		2022	4166	6188	SO:0001631	upstream_gene_variant	441476							g.chr9:140146913A>C	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778		9.37:g.140146913A>C	Exception_encountered					C9orf173_uc004cmj.1_Missense_Mutation_p.Q143P|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.Q142P|C9orf173_uc004cml.1_Missense_Mutation_p.Q142P|COBRA1_uc004cmm.3_5'Flank	p.Q142P			Q8N7X2	CI173_HUMAN			4	437	+			143					A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.425A>C	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.190102	0.38707	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.51071	0.72;0.76	3.32	3.32	0.38043	.	0.399941	0.18208	N	0.148276	T	0.56217	0.1970	L	0.50333	1.59	0.30865	N	0.733141	P;D;D;D	0.76494	0.94;0.998;0.999;0.994	B;D;D;P	0.69479	0.363;0.943;0.964;0.799	T	0.55205	-0.8177	10	0.35671	T	0.21	0.1374	8.2133	0.31496	1.0:0.0:0.0:0.0	.	143;143;143;143	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	P	143	ENSP00000373583:Q143P;ENSP00000391218:Q143P	ENSP00000373583:Q143P	Q	+	2	0	C9orf173	139266734	0.002000	0.14202	0.979000	0.43373	0.081000	0.17604	0.589000	0.23939	1.500000	0.48636	0.402000	0.26972	CAG		PASS	0.627	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		6	15	6	15	---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28420572	28420572	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:28420572C>A	ENST00000375732.1	-	6	623	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L	MPP7_ENST00000337532.5_Missense_Mutation_p.V122L|MPP7_ENST00000540098.1_Missense_Mutation_p.V122L|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.V122L|MPP7_ENST00000445954.2_5'UTR			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	122	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.V122L(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GGAGGCAACACTGGGTCGTAA	0.368																																						uc001iua.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)GTG>TTG		palmitoylated membrane protein 7							113.0	103.0	106.0					10																	28420572		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28420572C>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.364G>T	10.37:g.28420572C>A	ENSP00000364884:p.Val122Leu					MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.V122L|MPP7_uc009xla.2_Missense_Mutation_p.V122L|MPP7_uc010qdv.1_RNA	p.V122L	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			8	768	-			122			L27 2.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.364G>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967422	0.34754	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.73	3.88	0.44766	L27, C-terminal (1);PDZ/DHR/GLGF (1);L27 (2);	0.102638	0.64402	D	0.000003	T	0.11495	0.0280	L	0.45352	1.415	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.09840	-1.0656	10	0.20519	T	0.43	.	9.8686	0.41160	0.0:0.783:0.0:0.217	.	122	Q5T2T1	MPP7_HUMAN	L	122	ENSP00000364884:V122L;ENSP00000337907:V122L;ENSP00000438693:V122L;ENSP00000364871:V122L	ENSP00000337907:V122L	V	-	1	0	MPP7	28460578	0.864000	0.29904	0.285000	0.24819	0.863000	0.49368	4.835000	0.62781	1.430000	0.47334	0.555000	0.69702	GTG		PASS	0.368	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		33	123	33	123	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37506638	37506638	+	Silent	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:37506638A>G	ENST00000602533.1	+	33	3030	c.2931A>G	c.(2929-2931)caA>caG	p.Q977Q	ANKRD30A_ENST00000361713.1_Silent_p.Q977Q|ANKRD30A_ENST00000374660.1_Silent_p.Q1096Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1033					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q977Q(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTTTAAACCAAGAAGAAGAGA	0.294																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(2929-2931)CAA>CAG		ankyrin repeat domain 30A							39.0	40.0	39.0					10																	37506638		1782	4047	5829	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37506638A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2931A>G	10.37:g.37506638A>G							p.Q977Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			33	3030	+			1033			Potential.		Q5W025	Silent	SNP	ENST00000602533.1	37	c.2931A>G																																																																																					PASS	0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	27	7	27	---	---	---	---
VSTM4	196740	broad.mit.edu	37	10	50315656	50315656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:50315656G>T	ENST00000332853.4	-	2	463	c.440C>A	c.(439-441)tCa>tAa	p.S147*	VSTM4_ENST00000298454.3_Nonsense_Mutation_p.S147*	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	147	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S147*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTCCGTGGCTGAGGAGCCATT	0.617																																						uc001jhf.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(439-441)TCA>TAA		hypothetical protein LOC196740 isoform 1							99.0	88.0	92.0					10																	50315656		2203	4300	6503	SO:0001587	stop_gained	196740					integral to membrane|plasma membrane		g.chr10:50315656G>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.440C>A	10.37:g.50315656G>T	ENSP00000331062:p.Ser147*					C10orf72_uc001jhh.2_Nonsense_Mutation_p.S147*	p.S147*	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			2	469	-			147			Ig-like.|Extracellular (Potential).		B4DNI6|Q96MX7	Nonsense_Mutation	SNP	ENST00000332853.4	37	c.440C>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498079	0.96355	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	.	.	.	5.75	5.75	0.90469	.	0.253350	0.38326	N	0.001728	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2268	19.949	0.97192	0.0:0.0:1.0:0.0	.	.	.	.	X	147	.	ENSP00000298454:S147X	S	-	2	0	VSTM4	49985662	1.000000	0.71417	0.883000	0.34634	0.892000	0.51952	6.314000	0.72848	2.706000	0.92434	0.655000	0.94253	TCA		PASS	0.617	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		30	63	30	63	---	---	---	---
VSTM4	196740	broad.mit.edu	37	10	50316010	50316010	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:50316010G>A	ENST00000332853.4	-	2	109	c.86C>T	c.(85-87)tCc>tTc	p.S29F	VSTM4_ENST00000298454.3_Missense_Mutation_p.S29F	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	29	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S29F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGGCCCCGGGGACACAGTGAC	0.627																																						uc001jhf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(85-87)TCC>TTC		hypothetical protein LOC196740 isoform 1							21.0	27.0	25.0					10																	50316010		2199	4299	6498	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50316010G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.86C>T	10.37:g.50316010G>A	ENSP00000331062:p.Ser29Phe					C10orf72_uc001jhh.2_Missense_Mutation_p.S29F	p.S29F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			2	115	-			29			Ig-like.|Extracellular (Potential).		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.86C>T	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273081	0.80580	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.02709	4.19;4.19	5.83	5.83	0.93111	.	0.294749	0.38164	N	0.001797	T	0.11623	0.0283	L	0.60455	1.87	0.49798	D	0.99982	D;D	0.71674	0.998;0.984	D;P	0.64877	0.93;0.876	T	0.00041	-1.2234	10	0.87932	D	0	-29.4568	14.9004	0.70675	0.0:0.0:0.8567:0.1433	.	29;29	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	F	29	ENSP00000331062:S29F;ENSP00000298454:S29F	ENSP00000298454:S29F	S	-	2	0	VSTM4	49986016	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.707000	0.74654	2.750000	0.94351	0.655000	0.94253	TCC		PASS	0.627	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		5	13	5	13	---	---	---	---
ASAH2	56624	broad.mit.edu	37	10	52005154	52005154	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:52005154G>C	ENST00000395526.4	-	2	187	c.188C>G	c.(187-189)gCt>gGt	p.A63G	ASAH2_ENST00000447815.1_Missense_Mutation_p.A63G|ASAH2_ENST00000329428.6_Missense_Mutation_p.A44G	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	63					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.A44G(1)|p.A63G(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GCGTTGGGCAGCTGTGGAGCC	0.507																																						uc001jjd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(187-189)GCT>GGT		N-acylsphingosine amidohydrolase 2 isoform a							70.0	81.0	77.0					10																	52005154		2203	4300	6503	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52005154G>C	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.188C>G	10.37:g.52005154G>C	ENSP00000378897:p.Ala63Gly					ASAH2_uc009xos.2_Missense_Mutation_p.A63G	p.A63G	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			2	188	-			63			Lumenal (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.188C>G	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	G	1.504	-0.551375	0.03996	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.31769	1.48;1.48;1.49	2.38	0.0861	0.14444	.	1.115040	0.06960	U	0.816103	T	0.18800	0.0451	L	0.29908	0.895	0.09310	N	1	B;B	0.16166	0.0;0.016	B;B	0.14023	0.001;0.01	T	0.29761	-1.0001	10	0.23302	T	0.38	.	3.2627	0.06854	0.1754:0.2777:0.5469:0.0	.	63;63	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	G	63;63;44	ENSP00000378897:A63G;ENSP00000388206:A63G;ENSP00000329886:A44G	ENSP00000329886:A44G	A	-	2	0	ASAH2	51675160	0.026000	0.19158	0.001000	0.08648	0.001000	0.01503	2.441000	0.44864	0.345000	0.23873	-0.219000	0.12488	GCT		PASS	0.507	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		18	86	18	86	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55826581	55826581	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:55826581G>T	ENST00000320301.6	-	18	2550	c.2156C>A	c.(2155-2157)cCt>cAt	p.P719H	PCDH15_ENST00000373955.1_Missense_Mutation_p.P719H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P719H|PCDH15_ENST00000373965.2_Missense_Mutation_p.P726H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P726H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P330H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P724H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P719H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P648H|PCDH15_ENST00000373957.3_Missense_Mutation_p.P697H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P682H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P719H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P697H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	719	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.P719H(2)|p.P724H(2)		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)				TGGCAGATAAGGATCAAACAC	0.368										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2155-2157)CCT>CAT		protocadherin 15 isoform CD1-4 precursor							102.0	94.0	96.0					10																	55826581		2203	4300	6503	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.chr10:55826581G>T	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.2156C>A	10.37:g.55826581G>T	ENSP00000322604:p.Pro719His	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P724H|PCDH15_uc010qhr.1_Missense_Mutation_p.P719H|PCDH15_uc010qhs.1_Missense_Mutation_p.P731H|PCDH15_uc010qht.1_Missense_Mutation_p.P726H|PCDH15_uc010qhu.1_Missense_Mutation_p.P719H|PCDH15_uc001jjv.1_Missense_Mutation_p.P697H|PCDH15_uc010qhv.1_Missense_Mutation_p.P719H|PCDH15_uc010qhw.1_Missense_Mutation_p.P682H|PCDH15_uc010qhx.1_Missense_Mutation_p.P648H|PCDH15_uc010qhy.1_Missense_Mutation_p.P724H|PCDH15_uc010qhz.1_Missense_Mutation_p.P719H|PCDH15_uc010qia.1_Missense_Mutation_p.P697H|PCDH15_uc010qib.1_Missense_Mutation_p.P697H|PCDH15_uc001jjw.2_Missense_Mutation_p.P719H	p.P719H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			18	2551	-		Melanoma(3;0.117)|Lung SC(717;0.238)	719			Extracellular (Potential).|Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2156C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638024	0.47153	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.21;0.1;0.1;0.1;0.1	5.85	5.85	0.93711	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.49029	0.1533	L	0.48362	1.52	0.37905	D	0.931171	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21688	0.012;0.059;0.059;0.016;0.039;0.027;0.012;0.006;0.016;0.016;0.006;0.01;0.01;0.01;0.027	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.22386	0.023;0.035;0.035;0.014;0.039;0.022;0.013;0.005;0.009;0.009;0.005;0.013;0.008;0.005;0.014	T	0.52815	-0.8525	9	0.52906	T	0.07	.	7.8944	0.29697	0.0797:0.0:0.7588:0.1614	.	697;719;719;724;648;682;719;719;726;726;719;724;719;697;719	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	726;724;719;719;330;726;682;719;697;697;719;719;724;648;719	ENSP00000363076:P726H;ENSP00000410304:P724H;ENSP00000378826:P719H;ENSP00000386693:P330H;ENSP00000378832:P726H;ENSP00000378820:P682H;ENSP00000354950:P719H;ENSP00000378821:P697H;ENSP00000363068:P697H;ENSP00000322604:P719H;ENSP00000378818:P719H;ENSP00000412628:P648H;ENSP00000363066:P719H	ENSP00000322604:P719H	P	-	2	0	PCDH15	55496587	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	2.727000	0.47311	2.773000	0.95371	0.655000	0.94253	CCT		PASS	0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		26	79	26	79	---	---	---	---
TFAM	7019	broad.mit.edu	37	10	60150600	60150600	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:60150600G>T	ENST00000487519.1	+	5	1043	c.517G>T	c.(517-519)Gct>Tct	p.A173S	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Intron	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	173					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A173S(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ATTCCAAGAAGCTAAGGGTGA	0.353																																						uc001jkf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)GCT>TCT		transcription factor A, mitochondrial precursor							61.0	60.0	60.0					10																	60150600		2203	4300	6503	SO:0001583	missense	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60150600G>T	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.517G>T	10.37:g.60150600G>T	ENSP00000420588:p.Ala173Ser					TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Intron	p.A173S	NM_003201	NP_003192	Q00059	TFAM_HUMAN			5	649	+			173			HMG box 2.		A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	ENST00000487519.1	37	c.517G>T	CCDS7253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.03|14.03	2.414823|2.414823	0.42817|0.42817	.|.	.|.	ENSG00000108064|ENSG00000108064	ENST00000487519|ENST00000395377	T|.	0.42900|.	0.96|.	5.68|5.68	-0.966|-0.966	0.10320|0.10320	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);|.	0.465256|.	0.24657|.	N|.	0.036664|.	T|T	0.18676|0.18676	0.0448|0.0448	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	1|1	P|.	0.38551|.	0.636|.	P|.	0.46144|.	0.505|.	T|T	0.23511|0.23511	-1.0186|-1.0186	10|5	0.12103|.	T|.	0.63|.	.|.	0.576|0.576	0.00704|0.00704	0.2411:0.1378:0.338:0.2831|0.2411:0.1378:0.338:0.2831	.|.	173|.	Q00059|.	TFAM_HUMAN|.	S|I	173|154	ENSP00000420588:A173S|.	ENSP00000420588:A173S|.	A|S	+|+	1|2	0|0	TFAM|TFAM	59820606|59820606	0.008000|0.008000	0.16893|0.16893	0.008000|0.008000	0.14137|0.14137	0.163000|0.163000	0.22366|0.22366	-0.245000|-0.245000	0.08890|0.08890	0.062000|0.062000	0.16340|0.16340	0.655000|0.655000	0.94253|0.94253	GCT|AGC		PASS	0.353	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		20	43	20	43	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73461826	73461826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:73461826C>A	ENST00000224721.6	+	22	2465	c.2460C>A	c.(2458-2460)taC>taA	p.Y820*	CDH23_ENST00000299366.7_Nonsense_Mutation_p.Y860*	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	815	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.Y820*(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCTGGTGTACAGCATCCAGC	0.652																																						uc001jrx.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(2443-2445)TAC>TAA		cadherin-like 23 isoform 1 precursor							92.0	113.0	106.0					10																	73461826		2165	4250	6415	SO:0001587	stop_gained	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73461826C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2460C>A	10.37:g.73461826C>A	ENSP00000224721:p.Tyr820*					CDH23_uc001jry.2_Nonsense_Mutation_p.Y431*|CDH23_uc001jrz.2_Nonsense_Mutation_p.Y431*	p.Y815*	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			22	2822	+			815			Cadherin 8.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Nonsense_Mutation	SNP	ENST00000224721.6	37	c.2445C>A		.	.	.	.	.	.	.	.	.	.	C	16.52	3.146903	0.57151	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.56	1.36	0.22044	.	0.082538	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1838	0.42984	0.0:0.7146:0.0:0.2854	.	.	.	.	X	820;815;815;818;818;332	.	ENSP00000224721:Y820X	Y	+	3	2	CDH23	73131832	1.000000	0.71417	0.998000	0.56505	0.194000	0.23727	1.684000	0.37649	-0.006000	0.14370	-0.224000	0.12420	TAC		PASS	0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	64	3	64	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87628773	87628773	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:87628773C>A	ENST00000327946.7	-	6	1030	c.945G>T	c.(943-945)atG>atT	p.M315I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	315					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.M315I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGACCTGCAGCATCTGGAGGT	0.582										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(943-945)ATG>ATT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						156.0	112.0	127.0					10																	87628773		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628773C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.945G>T	10.37:g.87628773C>A	ENSP00000330148:p.Met315Ile	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.M315I	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			6	1046	-			315			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.945G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810988	0.32053	.	.	ENSG00000182771	ENST00000327946	D	0.85955	-2.05	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.170851	0.64402	D	0.000005	T	0.79118	0.4392	L	0.29908	0.895	0.80722	D	1	B	0.19445	0.036	B	0.19946	0.027	T	0.72447	-0.4291	10	0.19147	T	0.46	.	18.8388	0.92174	0.0:1.0:0.0:0.0	.	315	Q9ULK0	GRID1_HUMAN	I	315	ENSP00000330148:M315I	ENSP00000330148:M315I	M	-	3	0	GRID1	87618753	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.227000	0.32576	2.686000	0.91538	0.655000	0.94253	ATG		PASS	0.582	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		24	55	24	55	---	---	---	---
PAPSS2	9060	broad.mit.edu	37	10	89503199	89503199	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:89503199G>A	ENST00000361175.4	+	10	1646	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R430H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R431H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	426				R -> C (in Ref. 1; AAC64583). {ECO:0000305}.	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.R426H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAGGACACTCGCCGCAGGCTC	0.582																																						uc001kex.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1276-1278)CGC>CAC		3'-phosphoadenosine 5'-phosphosulfate synthase 2							114.0	109.0	111.0					10																	89503199		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89503199G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1277G>A	10.37:g.89503199G>A	ENSP00000354436:p.Arg426His					PAPSS2_uc001kew.2_Missense_Mutation_p.R431H	p.R426H	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	10	1540	+		Melanoma(5;0.019)|Colorectal(252;0.123)	426	R -> C (in Ref. 1; AAC64583).		Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1277G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354034	0.41700	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.30714	1.52;1.52;1.52	5.33	-0.918	0.10482	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.275458	0.41294	N	0.000907	T	0.34745	0.0908	M	0.85945	2.785	0.27243	N	0.959085	B;B	0.24675	0.068;0.109	B;B	0.27380	0.079;0.047	T	0.35574	-0.9783	10	0.39692	T	0.17	-4.7089	10.4568	0.44555	0.4969:0.0:0.5031:0.0	.	426;431	O95340;O95340-2	PAPS2_HUMAN;.	H	426;431;430;430	ENSP00000354436:R426H;ENSP00000406157:R431H;ENSP00000397123:R430H	ENSP00000354436:R426H	R	+	2	0	PAPSS2	89493179	1.000000	0.71417	0.010000	0.14722	0.984000	0.73092	2.454000	0.44979	-0.344000	0.08338	0.561000	0.74099	CGC		PASS	0.582	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			41	125	41	125	---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93619220	93619220	+	Splice_Site	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:93619220G>T	ENST00000371627.4	+	25	3475	c.3096G>T	c.(3094-3096)ggG>ggT	p.G1032G		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1032	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G1032G(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GTGTTTCAGGGTCTCCTTTTG	0.313																																						uc001khp.2																			1	Substitution - coding silent(1)		lung(1)	kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(3094-3096)GGG>GGT		tankyrase, TRF1-interacting ankyrin-related							92.0	91.0	91.0					10																	93619220		2203	4300	6503	SO:0001630	splice_region_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93619220G>T	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3095-1G>T	10.37:g.93619220G>T							p.G1032G	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			25	3393	+		Colorectal(252;0.162)	1032			PARP catalytic.		B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.3096G>T	CCDS7417.1																																																																																				PASS	0.313	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	Silent	33	114	33	114	---	---	---	---
CYP2C9	1559	broad.mit.edu	37	10	96701714	96701714	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:96701714C>G	ENST00000260682.6	+	2	280	c.268C>G	c.(268-270)Ctt>Gtt	p.L90V	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	90					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.L90V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCTGATTGATCTTGGAGAGGA	0.483																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)	6						c.(268-270)CTT>GTT		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						282.0	269.0	273.0					10																	96701714		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701714C>G	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.268C>G	10.37:g.96701714C>G	ENSP00000260682:p.Leu90Val					CYP2C9_uc009xut.2_Missense_Mutation_p.L90V|CYP2C9_uc001kjz.2_Missense_Mutation_p.L90V	p.L90V	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	2	293	+		Colorectal(252;0.0902)	90					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.268C>G	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	9.690	1.151556	0.21371	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.12147	2.71	3.34	3.34	0.38264	.	0.404179	0.22494	U	0.059340	T	0.13157	0.0319	L	0.32530	0.975	0.32561	N	0.531126	B;B;B	0.23735	0.079;0.079;0.09	B;B;B	0.32211	0.035;0.035;0.142	T	0.10222	-1.0639	10	0.51188	T	0.08	.	12.4947	0.55921	0.0:1.0:0.0:0.0	.	90;90;90	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	V	90	ENSP00000260682:L90V	ENSP00000260682:L90V	L	+	1	0	CYP2C9	96691704	0.393000	0.25237	0.248000	0.24265	0.364000	0.29643	1.118000	0.31246	1.840000	0.53500	0.484000	0.47621	CTT		PASS	0.483	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		54	170	54	170	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98127941	98127941	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:98127941C>T	ENST00000357947.3	-	21	3177	c.2952G>A	c.(2950-2952)atG>atA	p.M984I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	984	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M984I(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGAATCGAATCATCAGGGAAT	0.458																																						uc001kml.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2950-2952)ATG>ATA		tolloid-like 2 precursor							147.0	133.0	138.0					10																	98127941		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98127941C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2952G>A	10.37:g.98127941C>T	ENSP00000350630:p.Met984Ile						p.M984I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	21	3178	-		Colorectal(252;0.0846)	984			CUB 5.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.2952G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948286	0.73787	.	.	ENSG00000095587	ENST00000357947	T	0.32988	1.43	5.4	4.5	0.54988	CUB (5);	0.000000	0.53938	D	0.000053	T	0.41811	0.1175	L	0.31371	0.925	0.52501	D	0.999952	D	0.54964	0.969	D	0.70227	0.968	T	0.27971	-1.0058	10	0.48119	T	0.1	.	13.2899	0.60264	0.0:0.9246:0.0:0.0754	.	984	Q9Y6L7	TLL2_HUMAN	I	984	ENSP00000350630:M984I	ENSP00000350630:M984I	M	-	3	0	TLL2	98117931	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.130000	0.31393	1.521000	0.48983	0.655000	0.94253	ATG		PASS	0.458	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			21	89	21	89	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103920564	103920564	+	Silent	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:103920564A>G	ENST00000605788.1	+	10	1690	c.1455A>G	c.(1453-1455)acA>acG	p.T485T	NOLC1_ENST00000488254.2_Silent_p.T486T|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000405356.1_Silent_p.T495T|NOLC1_ENST00000603742.1_Silent_p.T204T	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	485	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.T485T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAGAGAAGACATCTAAGTCTG	0.537																																						uc001kuo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1453-1455)ACA>ACG		nucleolar and coiled-body phosphoprotein 1							64.0	64.0	64.0					10																	103920564		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103920564A>G	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1455A>G	10.37:g.103920564A>G						NOLC1_uc001kup.2_Silent_p.T495T|NOLC1_uc001kuq.2_Silent_p.T486T|NOLC1_uc009xxb.1_Silent_p.T204T|NOLC1_uc001kur.2_Silent_p.T204T	p.T485T	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	10	1690	+		Colorectal(252;0.122)	485			Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster.		Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.1455A>G	CCDS7530.1																																																																																				PASS	0.537	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		18	62	18	62	---	---	---	---
NT5C2	22978	broad.mit.edu	37	10	104849467	104849467	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:104849467C>T	ENST00000404739.3	-	17	1671	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	CNNM2_ENST00000369878.4_3'UTR|NT5C2_ENST00000343289.5_Missense_Mutation_p.E550K|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.E521K			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	550	Asp/Glu-rich (acidic).				cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.E550K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	tcatcatcttcgtcATGGCAG	0.498																																						uc001kwo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1648-1650)GAA>AAA		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						98.0	87.0	91.0					10																	104849467		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104849467C>T	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1648G>A	10.37:g.104849467C>T	ENSP00000383960:p.Glu550Lys					NT5C2_uc010qqp.1_Missense_Mutation_p.E521K|NT5C2_uc001kwq.2_Missense_Mutation_p.E550K|NT5C2_uc001kwp.2_Missense_Mutation_p.E397K	p.E550K	NM_012229	NP_036361	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	19	1834	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	550			Asp/Glu-rich (acidic).		B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.1648G>A	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922264	0.73213	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468	T;T;T	0.26067	2.06;2.06;1.76	5.96	5.06	0.68205	.	0.218590	0.46758	D	0.000271	T	0.16471	0.0396	N	0.19112	0.55	0.80722	D	1	P;P;P	0.38711	0.643;0.643;0.643	B;B;B	0.24974	0.057;0.057;0.057	T	0.03086	-1.1074	10	0.72032	D	0.01	-19.3031	17.2828	0.87133	0.0:0.8746:0.1254:0.0	.	521;397;550	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	K	550;550;521	ENSP00000339479:E550K;ENSP00000383960:E550K;ENSP00000392236:E521K	ENSP00000339479:E550K	E	-	1	0	NT5C2	104839457	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.818000	0.86416	1.518000	0.48934	0.655000	0.94253	GAA		PASS	0.498	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		35	96	35	96	---	---	---	---
CALHM2	51063	broad.mit.edu	37	10	105207318	105207318	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:105207318C>T	ENST00000260743.5	-	4	1086	c.563G>A	c.(562-564)gGa>gAa	p.G188E	CALHM2_ENST00000494180.1_5'Flank|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.G188E	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	188					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.G188E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GAGCAGCCATCCAAAGAGCTG	0.597																																						uc001kwz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(562-564)GGA>GAA		calcium homeostasis modulator 2							25.0	26.0	26.0					10																	105207318		2202	4299	6501	SO:0001583	missense	51063					integral to membrane		g.chr10:105207318C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.563G>A	10.37:g.105207318C>T	ENSP00000260743:p.Gly188Glu					CALHM2_uc001kxa.2_Missense_Mutation_p.G188E|CALHM2_uc001kxc.2_Missense_Mutation_p.D184N|CALHM2_uc001kxb.2_Missense_Mutation_p.G188E	p.G188E	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			3	949	-			188			Helical; (Potential).		D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.563G>A	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713306	0.89112	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.35973	1.28;1.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72534	-0.4264	10	0.87932	D	0	-36.3202	18.8027	0.92025	0.0:1.0:0.0:0.0	.	188	Q9HA72	CAHM2_HUMAN	E	188	ENSP00000358803:G188E;ENSP00000260743:G188E	ENSP00000260743:G188E	G	-	2	0	CALHM2	105197308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.589000	0.74080	2.529000	0.85273	0.561000	0.74099	GGA		PASS	0.597	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		5	25	5	25	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108366960	108366960	+	Silent	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:108366960A>T	ENST00000263054.6	-	23	3136	c.3129T>A	c.(3127-3129)gcT>gcA	p.A1043A	SORCS1_ENST00000369698.1_Silent_p.A578A|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Silent_p.A1043A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1043					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A1043A(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTTTCTCCAGCTGGATCCT	0.532																																						uc001kym.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3127-3129)GCT>GCA		SORCS receptor 1 isoform a							98.0	93.0	95.0					10																	108366960		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108366960A>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3129T>A	10.37:g.108366960A>T						SORCS1_uc001kyl.2_Silent_p.A1043A|SORCS1_uc009xxs.2_Silent_p.A1043A|SORCS1_uc001kyn.1_Silent_p.A1043A|SORCS1_uc001kyo.2_Silent_p.A1043A	p.A1043A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3137	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1043			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.3129T>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	4.468	0.086746	0.08583	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.81	-11.6	0.00059	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.43803	D	0.99635	.	.	.	.	.	.	T	0.41822	-0.9487	4	.	.	.	0.8255	2.6496	0.04995	0.4905:0.1986:0.0791:0.2319	.	.	.	.	Q	58	.	.	L	-	2	0	SORCS1	108356950	0.000000	0.05858	0.002000	0.10522	0.391000	0.30476	-0.912000	0.04046	-1.692000	0.01428	-0.791000	0.03333	CTG		PASS	0.532	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		6	95	6	95	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108716299	108716299	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:108716299C>A	ENST00000263054.6	-	2	605	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	SORCS1_ENST00000344440.6_Missense_Mutation_p.G200W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	200					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G200W(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTGATGCTCCCCAGGTTATAG	0.403																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(598-600)GGG>TGG		SORCS receptor 1 isoform a							129.0	120.0	123.0					10																	108716299		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108716299C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.598G>T	10.37:g.108716299C>A	ENSP00000263054:p.Gly200Trp					SORCS1_uc001kyl.2_Missense_Mutation_p.G200W|SORCS1_uc009xxs.2_Missense_Mutation_p.G200W|SORCS1_uc001kyn.1_Missense_Mutation_p.G200W|SORCS1_uc001kyo.2_Missense_Mutation_p.G200W	p.G200W	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	2	606	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	200			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.598G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303107	0.81136	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.38077	1.16;1.16	5.76	5.76	0.90799	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	L	0.32530	0.975	0.51012	D	0.999902	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.999	T	0.32824	-0.9892	9	.	.	.	-22.3896	20.3316	0.98722	0.0:1.0:0.0:0.0	.	200;200;200;200;200	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	W	200	ENSP00000263054:G200W;ENSP00000345964:G200W	.	G	-	1	0	SORCS1	108706289	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.130000	0.71663	2.871000	0.98454	0.655000	0.94253	GGG		PASS	0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		22	79	22	79	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117026389	117026389	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:117026389G>C	ENST00000355044.3	+	12	2014	c.1888G>C	c.(1888-1890)Ggg>Cgg	p.G630R		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	630	PSI 1.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G630R(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCTGGTCCAGGGATAAAATG	0.363																																						uc001lcg.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1888-1890)GGG>CGG		attractin-like 1 precursor							102.0	115.0	111.0					10																	117026389		2203	4299	6502	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117026389G>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1888G>C	10.37:g.117026389G>C	ENSP00000347152:p.Gly630Arg						p.G630R	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	12	2274	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	630			PSI 1.|Kelch 6.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1888G>C	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664125	0.88251	.	.	ENSG00000107518	ENST00000355044	T	0.15834	2.39	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.32613	-0.9900	10	0.72032	D	0.01	-12.2556	19.9828	0.97334	0.0:0.0:1.0:0.0	.	630	Q5VV63	ATRN1_HUMAN	R	630	ENSP00000347152:G630R	ENSP00000347152:G630R	G	+	1	0	ATRNL1	117016379	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.186000	0.94906	2.718000	0.92993	0.460000	0.39030	GGG		PASS	0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		26	112	26	112	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118220599	118220599	+	Splice_Site	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:118220599T>A	ENST00000369230.3	+	6	831		c.e6+2			NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTGAGCTTGGTAAGTTTTAAC	0.398																																						uc001lcl.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e6+2		pancreatic lipase-related protein 3 precursor							139.0	131.0	134.0					10																	118220599		2203	4300	6503	SO:0001630	splice_region_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118220599T>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.685+2T>A	10.37:g.118220599T>A							p.G229_splice	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	6	786	+									Splice_Site	SNP	ENST00000369230.3	37	c.685_splice	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035569	0.75617	.	.	ENSG00000203837	ENST00000369230	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7298	0.69372	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIPRP3	118210589	1.000000	0.71417	0.641000	0.29422	0.732000	0.41865	6.248000	0.72418	2.070000	0.61991	0.482000	0.46254	.		PASS	0.398	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	Intron	55	144	55	144	---	---	---	---
DHX32	55760	broad.mit.edu	37	10	127542766	127542766	+	Missense_Mutation	SNP	C	C	T	rs370623553		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr10:127542766C>T	ENST00000284690.3	-	4	1346	c.856G>A	c.(856-858)Gag>Aag	p.E286K	DHX32_ENST00000368721.1_5'UTR|DHX32_ENST00000284688.6_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	286						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.E286K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGACTTTCTCAATATCCTAA	0.303																																						uc001ljf.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(856-858)GAG>AAG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32		C	LYS/GLU	0,4406		0,0,2203	39.0	41.0	40.0		856	5.0	1.0	10		40	1,8597	1.2+/-3.3	0,1,4298	no	missense	DHX32	NM_018180.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	286/744	127542766	1,13003	2203	4299	6502	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127542766C>T		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.856G>A	10.37:g.127542766C>T	ENSP00000284690:p.Glu286Lys					DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Missense_Mutation_p.E286K|DHX32_uc009yam.1_Intron	p.E286K	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			4	1347	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	286					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.856G>A	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229339	0.39399	0.0	1.16E-4	ENSG00000089876	ENST00000284690	T	0.07688	3.17	5.9	4.99	0.66335	.	0.381500	0.29145	N	0.013010	T	0.11580	0.0282	M	0.70275	2.135	0.80722	D	1	B	0.22276	0.067	B	0.15870	0.014	T	0.01982	-1.1235	10	0.87932	D	0	-29.0815	9.8284	0.40925	0.0:0.8501:0.0:0.1499	.	286	Q7L7V1	DHX32_HUMAN	K	286	ENSP00000284690:E286K	ENSP00000284690:E286K	E	-	1	0	DHX32	127532756	0.991000	0.36638	1.000000	0.80357	0.455000	0.32408	2.912000	0.48782	2.798000	0.96311	0.650000	0.86243	GAG		PASS	0.303	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		9	57	9	57	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1257660	1257660	+	Silent	SNP	G	G	A	rs551502589		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:1257660G>A	ENST00000529681.1	+	24	2983	c.2925G>A	c.(2923-2925)gcG>gcA	p.A975A	MUC5B_ENST00000447027.1_Silent_p.A978A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	975	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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.A978A(1)|p.A975A(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)		AGGCGGTGGCGAGAGGGCCGG	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		15938	0.0		0.001	False		,,,				2504	0.0					uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(5002-5004)GCG>GCA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							54.0	62.0	59.0					11																	1257660		1950	4133	6083	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1257660G>A	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.2925G>A	11.37:g.1257660G>A						MUC5B_uc009yct.1_Silent_p.A975A|MUC5B_uc001ltb.2_Silent_p.A978A|MUC5B_uc001lta.2_Silent_p.A643A	p.A1668A	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)	40	5130	+		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)	975			VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.5004G>A	CCDS44515.2																																																																																				PASS	0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		23	60	23	60	---	---	---	---
BRSK2	9024	broad.mit.edu	37	11	1467049	1467049	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:1467049C>T	ENST00000528841.1	+	12	1522	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	BRSK2_ENST00000382179.1_Missense_Mutation_p.R426C|BRSK2_ENST00000528710.1_Missense_Mutation_p.R320C|BRSK2_ENST00000531197.1_Missense_Mutation_p.R380C|BRSK2_ENST00000526678.1_Missense_Mutation_p.R380C|BRSK2_ENST00000308230.5_Missense_Mutation_p.R380C|BRSK2_ENST00000308219.9_Missense_Mutation_p.R380C|BRSK2_ENST00000544817.1_Missense_Mutation_p.R75C			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	380					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R380C(1)		endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGGCCAGAACGCAAATCCAT	0.687																																						uc001lti.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1138-1140)CGC>TGC		BR serine/threonine kinase 2							37.0	49.0	45.0					11																	1467049		2163	4267	6430	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1467049C>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1138C>T	11.37:g.1467049C>T	ENSP00000432000:p.Arg380Cys					BRSK2_uc009ycv.1_Missense_Mutation_p.R380C|BRSK2_uc001lth.1_Missense_Mutation_p.R380C|BRSK2_uc001ltj.2_Missense_Mutation_p.R380C|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.R380C|BRSK2_uc001ltm.2_Missense_Mutation_p.R426C|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	p.R380C	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	12	1524	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	380					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.1138C>T	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338574	0.60963	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.73789	-0.78;-0.77;-0.75;1.81;-0.75;1.81;-0.62;0.73	4.71	2.61	0.31194	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	T	0.74733	0.3755	L	0.34521	1.04	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;0.991;0.982	T	0.74657	-0.3592	10	0.72032	D	0.01	.	5.5589	0.17131	0.4003:0.4916:0.0:0.108	.	380;426;380;380;380	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	C	380;380;380;380;380;320;426;75	ENSP00000310697:R380C;ENSP00000431152:R380C;ENSP00000310805:R380C;ENSP00000432000:R380C;ENSP00000433370:R380C;ENSP00000433235:R320C;ENSP00000371614:R426C;ENSP00000445168:R75C	ENSP00000310697:R380C	R	+	1	0	BRSK2	1423625	1.000000	0.71417	0.943000	0.38184	0.357000	0.29423	2.406000	0.44557	2.182000	0.69389	0.462000	0.41574	CGC		PASS	0.687	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		14	25	14	25	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529258	5529258	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:5529258G>A	ENST00000311659.4	-	2	1678	c.1531C>T	c.(1531-1533)Ctt>Ttt	p.L511F	HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	511								p.L511F(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCCTGAAGGTGCATCAGC	0.577																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1531-1533)CTT>TTT		ubiquilin 3							59.0	60.0	60.0					11																	5529258		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529258G>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1531C>T	11.37:g.5529258G>A	ENSP00000347997:p.Leu511Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.L511F	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1617	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	511					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1531C>T	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425913	0.25726	.	.	ENSG00000175520	ENST00000311659	T	0.39787	1.06	4.44	2.54	0.30619	.	0.181955	0.26658	N	0.023161	T	0.30696	0.0773	L	0.43598	1.365	0.28435	N	0.917077	B	0.06786	0.001	B	0.10450	0.005	T	0.16778	-1.0391	10	0.34782	T	0.22	.	6.7139	0.23292	0.2171:0.0:0.7829:0.0	.	511	Q9H347	UBQL3_HUMAN	F	511	ENSP00000347997:L511F	ENSP00000347997:L511F	L	-	1	0	UBQLN3	5485834	0.664000	0.27457	0.927000	0.36925	0.870000	0.49936	0.878000	0.28126	0.584000	0.29591	0.655000	0.94253	CTT		PASS	0.577	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		14	42	14	42	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6423837	6423837	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:6423837A>G	ENST00000609360.1	-	7	1322	c.1223T>C	c.(1222-1224)cTg>cCg	p.L408P	APBB1_ENST00000608704.1_Missense_Mutation_p.L149P|APBB1_ENST00000530885.1_Missense_Mutation_p.L188P|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.L408P|APBB1_ENST00000299402.6_Missense_Mutation_p.L408P|APBB1_ENST00000608655.1_Missense_Mutation_p.L188P|APBB1_ENST00000609331.1_Missense_Mutation_p.L173P|APBB1_ENST00000608645.1_Missense_Mutation_p.L149P|APBB1_ENST00000608394.1_Missense_Mutation_p.L149P|APBB1_ENST00000389906.2_Missense_Mutation_p.L408P	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	408	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.L408P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGGGTCATGCAGGTTGTTTTT	0.577																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1222-1224)CTG>CCG		amyloid beta A4 precursor protein-binding,							87.0	85.0	86.0					11																	6423837		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423837A>G	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1223T>C	11.37:g.6423837A>G	ENSP00000477213:p.Leu408Pro					APBB1_uc001mcz.1_Missense_Mutation_p.L29P|APBB1_uc001mdd.3_Missense_Mutation_p.L188P|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.L408P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Missense_Mutation_p.L29P|APBB1_uc010rae.1_Missense_Mutation_p.L173P|APBB1_uc010raf.1_Missense_Mutation_p.L149P|APBB1_uc009yfa.2_Missense_Mutation_p.L149P|APBB1_uc009yey.2_Missense_Mutation_p.L149P|APBB1_uc010rag.1_Missense_Mutation_p.L149P|APBB1_uc009yfb.2_Missense_Mutation_p.L149P|APBB1_uc001mde.2_Missense_Mutation_p.L149P|APBB1_uc010rah.1_Missense_Mutation_p.L149P	p.L408P	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	7	1323	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	408			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1223T>C		.	.	.	.	.	.	.	.	.	.	A	21.5	4.158437	0.78114	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	4.5	4.5	0.54988	.	0.000000	0.56097	D	0.000023	T	0.36303	0.0962	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.77557	0.974;0.99;0.973;0.97	T	0.07673	-1.0760	10	0.59425	D	0.04	-8.2079	10.3577	0.43974	1.0:0.0:0.0:0.0	.	257;173;188;408	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	P	408;408;408;257;149;173;188;149	ENSP00000299402:L408P;ENSP00000311912:L408P;ENSP00000374556:L408P;ENSP00000433338:L188P;ENSP00000437114:L149P	ENSP00000299402:L408P	L	-	2	0	APBB1	6380413	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	4.174000	0.58256	2.020000	0.59435	0.482000	0.46254	CTG		PASS	0.577	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		17	64	17	64	---	---	---	---
OR2D2	120776	broad.mit.edu	37	11	6912971	6912971	+	Missense_Mutation	SNP	G	G	A	rs375501732		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:6912971G>A	ENST00000299459.2	-	1	859	c.761C>T	c.(760-762)tCa>tTa	p.S254L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	254					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S254L(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATAATTGCTGATCCATAAAA	0.433																																						uc010rau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(760-762)TCA>TTA		olfactory receptor, family 2, subfamily D,							93.0	87.0	89.0					11																	6912971		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6912971G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.761C>T	11.37:g.6912971G>A	ENSP00000299459:p.Ser254Leu						p.S254L	NM_003700	NP_003691	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	761	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	254			Helical; Name=6; (Potential).		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.761C>T	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	g	18.05	3.537207	0.65085	.	.	ENSG00000166368	ENST00000299459	T	0.00174	8.62	5.08	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40222	N	0.001146	T	0.00468	0.0015	M	0.85859	2.78	0.21499	N	0.999669	P	0.46020	0.871	P	0.54100	0.742	T	0.20075	-1.0286	10	0.72032	D	0.01	-14.1054	11.834	0.52312	0.0853:0.0:0.9147:0.0	.	254	Q9H210	OR2D2_HUMAN	L	254	ENSP00000299459:S254L	ENSP00000299459:S254L	S	-	2	0	OR2D2	6869547	0.007000	0.16637	1.000000	0.80357	0.974000	0.67602	1.808000	0.38912	1.539000	0.49286	0.639000	0.83563	TCA		PASS	0.433	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		17	49	17	49	---	---	---	---
OVCH2	341277	broad.mit.edu	37	11	7723862	7723862	+	lincRNA	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:7723862G>T	ENST00000527565.1	-	0	1178				OVCH2_ENST00000534193.2_RNA|RP11-35J10.4_ENST00000527443.1_RNA|OVCH2_ENST00000454689.1_RNA														p.T102N(1)									AACATTCAAAGTAGACACAAT	0.388																																						uc010rbf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)ACT>AAT		ovochymase 2 precursor							68.0	64.0	66.0					11																	7723862		1884	4130	6014			341277							g.chr11:7723862G>T																													11.37:g.7723862G>T							p.T102N	NM_198185	NP_937828				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	4	305	-									Missense_Mutation	SNP	ENST00000527565.1	37	c.305C>A		.	.	.	.	.	.	.	.	.	.	G	1.985	-0.433103	0.04669	.	.	ENSG00000183378	ENST00000454689	D	0.87966	-2.32	5.92	0.133	0.14766	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.618161	0.14388	N	0.322718	T	0.61862	0.2381	N	0.02169	-0.655	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.53251	-0.8465	10	0.16420	T	0.52	-1.451	3.631	0.08131	0.2677:0.0:0.28:0.4523	.	102	Q7RTZ1	OVCH2_HUMAN	N	102	ENSP00000407158:T102N	ENSP00000407158:T102N	T	-	2	0	OVCH2	7680438	0.000000	0.05858	0.093000	0.20910	0.112000	0.19704	-0.014000	0.12656	0.370000	0.24538	0.561000	0.74099	ACT		PASS	0.388	RP11-35J10.5-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000385692.1			5	19	5	19	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9225228	9225228	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:9225228G>T	ENST00000328194.3	-	4	1248	c.928C>A	c.(928-930)Caa>Aaa	p.Q310K	DENND5A_ENST00000530044.1_Missense_Mutation_p.Q310K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	310	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q310K(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCAGGATTTGAAACTCCAGA	0.468																																						uc001mhl.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(928-930)CAA>AAA		RAB6 interacting protein 1							58.0	63.0	61.0					11																	9225228		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9225228G>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.928C>A	11.37:g.9225228G>T	ENSP00000328524:p.Gln310Lys					DENND5A_uc010rbw.1_Missense_Mutation_p.Q310K|DENND5A_uc010rbx.1_RNA	p.Q310K	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			4	1183	-			310			DENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.928C>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924600	0.92319	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.08008	3.14;3.14	5.31	5.31	0.75309	DENN (3);	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	L	0.28776	0.89	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76071	0.987;0.987	T	0.01276	-1.1398	10	0.52906	T	0.07	.	18.9731	0.92722	0.0:0.0:1.0:0.0	.	310;310	E9PS91;Q6IQ26	.;DEN5A_HUMAN	K	310	ENSP00000328524:Q310K;ENSP00000435866:Q310K	ENSP00000328524:Q310K	Q	-	1	0	DENND5A	9181804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.471000	0.83476	0.650000	0.86243	CAA		PASS	0.468	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		22	68	22	68	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22225351	22225351	+	Splice_Site	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:22225351G>T	ENST00000324559.8	+	2	359	c.42G>T	c.(40-42)ggG>ggT	p.G14G		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	14					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G14G(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTAATTTAGGGGAAAAAGTCA	0.269																																						uc001mqi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(40-42)GGG>GGT		anoctamin 5 isoform a							31.0	33.0	32.0					11																	22225351		2164	4253	6417	SO:0001630	splice_region_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22225351G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.41-1G>T	11.37:g.22225351G>T						ANO5_uc001mqj.2_Silent_p.G14G	p.G14G	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			2	359	+			14			Cytoplasmic (Potential).			Silent	SNP	ENST00000324559.8	37	c.42G>T	CCDS31444.1																																																																																				PASS	0.269	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	Silent	4	21	4	21	---	---	---	---
RAG2	5897	broad.mit.edu	37	11	36614281	36614281	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:36614281C>G	ENST00000311485.3	-	2	1599	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	C11orf74_ENST00000446510.2_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	480					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.E480Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCCACATGCTCATTGCAGTAA	0.478									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(1438-1440)GAG>CAG		recombination activating gene 2							114.0	104.0	108.0					11																	36614281		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614281C>G	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1438G>C	11.37:g.36614281C>G	ENSP00000308620:p.Glu480Gln					RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.E480Q	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	1626	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	480			PHD-type; atypical.		A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1438G>C	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941873	0.73557	.	.	ENSG00000175097	ENST00000311485	D	0.96365	-3.99	5.37	5.37	0.77165	.	0.055696	0.64402	D	0.000001	D	0.95847	0.8648	N	0.21448	0.665	0.53005	D	0.999964	D	0.57571	0.98	P	0.58130	0.833	D	0.96370	0.9273	10	0.59425	D	0.04	-13.0774	19.4797	0.95005	0.0:1.0:0.0:0.0	.	480	P55895	RAG2_HUMAN	Q	480	ENSP00000308620:E480Q	ENSP00000308620:E480Q	E	-	1	0	RAG2	36570857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.788000	0.55446	2.684000	0.91462	0.650000	0.86243	GAG		PASS	0.478	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		50	98	50	98	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43421578	43421578	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:43421578T>C	ENST00000039989.4	+	9	1213	c.1199T>C	c.(1198-1200)aTg>aCg	p.M400T	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.M400T	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	400					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.M400T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAGACTCAGATGGCAAAAGAG	0.373																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1198-1200)ATG>ACG		tetratricopeptide repeat domain 17							98.0	93.0	94.0					11																	43421578		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43421578T>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1199T>C	11.37:g.43421578T>C	ENSP00000039989:p.Met400Thr					TTC17_uc001mxh.2_Missense_Mutation_p.M400T|TTC17_uc010rfj.1_Missense_Mutation_p.M343T|TTC17_uc001mxj.2_Missense_Mutation_p.M170T	p.M400T	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			9	1213	+			400					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1199T>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126035	0.37533	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.32023	1.47;1.49	5.85	5.85	0.93711	.	0.068485	0.85682	D	0.000000	T	0.25082	0.0609	L	0.51422	1.61	0.52501	D	0.999953	P;B;P	0.43094	0.488;0.156;0.799	B;B;B	0.30572	0.055;0.026;0.117	T	0.06303	-1.0834	10	0.21540	T	0.41	-21.0129	16.2375	0.82384	0.0:0.0:0.0:1.0	.	400;400;400	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	T	400	ENSP00000299240:M400T;ENSP00000039989:M400T	ENSP00000039989:M400T	M	+	2	0	TTC17	43378154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.222000	0.72286	0.533000	0.62120	ATG		PASS	0.373	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		25	77	25	77	---	---	---	---
ATG13	9776	broad.mit.edu	37	11	46689361	46689361	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:46689361G>T	ENST00000434074.1	+	13	1765	c.1076G>T	c.(1075-1077)cGg>cTg	p.R359L	ATG13_ENST00000451945.1_Missense_Mutation_p.R322L|ATG13_ENST00000524625.1_Missense_Mutation_p.R322L|ATG13_ENST00000528494.1_Missense_Mutation_p.R392L|ATG13_ENST00000359513.4_Missense_Mutation_p.R359L|ATG13_ENST00000312040.4_Missense_Mutation_p.R359L|ATG13_ENST00000529655.1_Missense_Mutation_p.R322L|ATG13_ENST00000530500.1_Missense_Mutation_p.R243L|ATG13_ENST00000526508.1_Missense_Mutation_p.R359L	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	359					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.R322L(1)|p.R392L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGTGAGGGACGGGCCTCCCCT	0.493																																						uc009yld.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1075-1077)CGG>CTG		autophagy-related protein 13 isoform 1							101.0	85.0	90.0					11																	46689361		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46689361G>T	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1076G>T	11.37:g.46689361G>T	ENSP00000400642:p.Arg359Leu					KIAA0652_uc001nda.2_Missense_Mutation_p.R392L|KIAA0652_uc001ndb.2_Missense_Mutation_p.R359L|KIAA0652_uc001ncz.2_Missense_Mutation_p.R322L|KIAA0652_uc001ndc.2_Missense_Mutation_p.R322L|KIAA0652_uc010rgv.1_Missense_Mutation_p.R243L	p.R359L	NM_001142673	NP_001136145	O75143	ATG13_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	14	1760	+			359					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.1076G>T	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198370	0.79015	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	6.07	4.12	0.48240	.	0.429336	0.25566	N	0.029798	T	0.29684	0.0741	L	0.36672	1.1	0.29593	N	0.848244	B;B;B;B	0.30511	0.165;0.074;0.282;0.132	B;B;B;B	0.24848	0.037;0.038;0.056;0.055	T	0.23655	-1.0182	9	0.52906	T	0.07	-10.0663	7.6491	0.28337	0.1454:0.134:0.7206:0.0	.	243;359;392;322	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	L	322;359;359;322;322;243;359;322;359;392;91	.	ENSP00000310321:R359L	R	+	2	0	ATG13	46645937	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	3.728000	0.54991	0.808000	0.34231	0.655000	0.94253	CGG		PASS	0.493	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		23	79	23	79	---	---	---	---
OR4A47	403253	broad.mit.edu	37	11	48510827	48510827	+	Silent	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:48510827T>C	ENST00000446524.1	+	1	559	c.483T>C	c.(481-483)atT>atC	p.I161I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I161I(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTAGCATTATTTATGGGCTCC	0.438																																						uc010rhx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(481-483)ATT>ATC		olfactory receptor, family 4, subfamily A,							135.0	127.0	130.0					11																	48510827		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510827T>C	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.483T>C	11.37:g.48510827T>C							p.I161I	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	483	+			161			Extracellular (Potential).			Silent	SNP	ENST00000446524.1	37	c.483T>C	CCDS31490.1																																																																																				PASS	0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		56	168	56	168	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515935	51515935	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:51515935C>A	ENST00000328188.1	+	1	654	c.654C>A	c.(652-654)gtC>gtA	p.V218V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V218V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCTATGTGGTCATCTTGTGCT	0.507																																						uc010ric.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)GTC>GTA		olfactory receptor, family 4, subfamily C,							119.0	101.0	108.0					11																	51515935		2201	4296	6497	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515935C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.654C>A	11.37:g.51515935C>A							p.V218V	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	654	+			218			Helical; Name=5; (Potential).			Silent	SNP	ENST00000328188.1	37	c.654C>A	CCDS31498.1																																																																																				PASS	0.507	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		30	81	30	81	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432813	55432813	+	Missense_Mutation	SNP	G	G	C	rs202231438		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:55432813G>C	ENST00000314259.3	+	1	200	c.171G>C	c.(169-171)atG>atC	p.M57I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M57I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGTCACCTATGTATTTTTTTC	0.413																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(169-171)ATG>ATC		olfactory receptor, family 4, subfamily C,							296.0	260.0	272.0					11																	55432813		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432813G>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.171G>C	11.37:g.55432813G>C	ENSP00000324769:p.Met57Ile					OR4C6_uc010rik.1_Missense_Mutation_p.M57I	p.M57I	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	436	+			57			Helical; Name=2; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.171G>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200924	0.58234	.	.	ENSG00000181903	ENST00000314259	T	0.09350	2.99	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000272	T	0.35422	0.0931	H	0.97707	4.06	0.32418	N	0.549693	P	0.41498	0.752	P	0.46208	0.507	T	0.65063	-0.6259	10	0.72032	D	0.01	.	14.3601	0.66766	0.0:0.0:1.0:0.0	.	57	Q8NH72	OR4C6_HUMAN	I	57	ENSP00000324769:M57I	ENSP00000324769:M57I	M	+	3	0	OR4C6	55189389	1.000000	0.71417	0.790000	0.31976	0.124000	0.20399	7.882000	0.87258	1.698000	0.51180	0.543000	0.68304	ATG		PASS	0.413	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		50	220	50	220	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587148	55587148	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:55587148C>T	ENST00000333976.4	+	1	63	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L15F(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)				CACGTTCACCCTCTTGGGCTT	0.428																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(43-45)CTC>TTC		olfactory receptor, family 5, subfamily D,							109.0	102.0	104.0					11																	55587148		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587148C>T	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.43C>T	11.37:g.55587148C>T	ENSP00000335025:p.Leu15Phe						p.L15F	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	43	+		all_epithelial(135;0.208)	15			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.43C>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	c	12.50	1.955971	0.34471	.	.	ENSG00000186119	ENST00000333976	T	0.00384	7.6	4.99	3.1	0.35709	.	0.000000	0.34088	N	0.004266	T	0.00384	0.0012	L	0.50847	1.595	0.22620	N	0.998929	B	0.28636	0.218	B	0.40375	0.327	T	0.33085	-0.9882	10	0.45353	T	0.12	-29.6846	9.8484	0.41041	0.0:0.8307:0.0:0.1693	.	15	Q8NGL1	OR5DI_HUMAN	F	15	ENSP00000335025:L15F	ENSP00000335025:L15F	L	+	1	0	OR5D18	55343724	0.011000	0.17503	0.558000	0.28319	0.845000	0.48019	0.105000	0.15333	1.275000	0.44379	0.632000	0.83419	CTC		PASS	0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		19	75	19	75	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55657463	55657463	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:55657463G>T	ENST00000449290.2	+	6	899	c.807G>T	c.(805-807)gaG>gaT	p.E269D	TRIM51_ENST00000244891.3_Missense_Mutation_p.E126D	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	269	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E269D(1)|p.E110D(1)									TGAATCCAGAGCTCAGTGCAG	0.478																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(805-807)GAG>GAT		SPRY domain containing 5							54.0	49.0	51.0					11																	55657463		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55657463G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.807G>T	11.37:g.55657463G>T	ENSP00000395086:p.Glu269Asp					SPRYD5_uc010riq.1_Missense_Mutation_p.E126D	p.E269D	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			6	899	+		all_epithelial(135;0.226)	269			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.807G>T		.	.	.	.	.	.	.	.	.	.	.	7.392	0.630906	0.14322	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.06933	3.24;3.24	0.471	0.471	0.16752	B30.2/SPRY domain (1);	.	.	.	.	T	0.04363	0.0120	N	0.11427	0.14	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.40251	-0.9573	8	0.45353	T	0.12	.	.	.	.	.	269	Q9BSJ1	SPRY5_HUMAN	D	269;126	ENSP00000395086:E269D;ENSP00000244891:E126D	ENSP00000244891:E126D	E	+	3	2	SPRYD5	55414039	0.250000	0.23951	0.055000	0.19348	0.261000	0.26267	0.704000	0.25661	0.500000	0.27991	0.162000	0.16502	GAG		PASS	0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		17	55	17	55	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681710	55681710	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:55681710C>T	ENST00000344514.1	-	1	348	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V117M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGCCATCACTGACAGCAGT	0.453																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)GTG>ATG		olfactory receptor, family 5, subfamily W,							94.0	92.0	93.0					11																	55681710		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681710C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.349G>A	11.37:g.55681710C>T	ENSP00000342448:p.Val117Met						p.V117M	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	349	-			117			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.349G>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972926	0.53614	.	.	ENSG00000187612	ENST00000344514	T	0.05855	3.38	5.01	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.213742	0.23386	N	0.048759	T	0.15219	0.0367	M	0.80422	2.495	0.28409	N	0.918256	P	0.46706	0.883	P	0.48454	0.578	T	0.03325	-1.1048	10	0.42905	T	0.14	.	11.1766	0.48603	0.0:0.908:0.0:0.092	.	117	Q8NH69	OR5W2_HUMAN	M	117	ENSP00000342448:V117M	ENSP00000342448:V117M	V	-	1	0	OR5W2	55438286	0.002000	0.14202	0.995000	0.50966	0.991000	0.79684	1.443000	0.35057	1.068000	0.40764	0.549000	0.68633	GTG		PASS	0.453	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		22	62	22	62	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904298	55904298	+	Silent	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:55904298A>G	ENST00000301529.1	-	1	896	c.897T>C	c.(895-897)gtT>gtC	p.V299V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V299V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TCTTTAAGGCAACATTTACAT	0.343																																						uc010riz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(895-897)GTT>GTC		olfactory receptor, family 8, subfamily J,							88.0	88.0	88.0					11																	55904298		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904298A>G		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.897T>C	11.37:g.55904298A>G							p.V299V	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	897	-	Esophageal squamous(21;0.00693)		299			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.897T>C	CCDS31520.1																																																																																				PASS	0.343	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		28	70	28	70	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	56000245	56000245	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:56000245C>A	ENST00000313264.4	-	1	492	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q139H(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAGAAACACCTGTGCTACAC	0.408																																						uc010rjc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(415-417)CAG>CAT		olfactory receptor, family 5, subfamily T,							154.0	136.0	142.0					11																	56000245		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000245C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.417G>T	11.37:g.56000245C>A	ENSP00000323688:p.Gln139His						p.Q139H	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	417	-	Esophageal squamous(21;0.00448)		139			Helical; Name=3; (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.417G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424461	0.25639	.	.	ENSG00000181718	ENST00000313264	T	0.00472	7.19	5.07	0.768	0.18487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001234	T	0.01627	0.0052	H	0.94264	3.515	0.21020	N	0.999804	D	0.76494	0.999	D	0.73380	0.98	T	0.28681	-1.0036	10	0.87932	D	0	.	6.503	0.22180	0.1311:0.5684:0.0:0.3005	.	139	Q8NGG2	OR5T2_HUMAN	H	139	ENSP00000323688:Q139H	ENSP00000323688:Q139H	Q	-	3	2	OR5T2	55756821	0.000000	0.05858	0.945000	0.38365	0.016000	0.09150	-0.285000	0.08410	0.203000	0.20529	0.471000	0.43371	CAG		PASS	0.408	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		45	119	45	119	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56310013	56310013	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:56310013C>A	ENST00000528616.2	-	1	744	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G241C(1)|p.G242C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ATATGGGAACCACAGGTGGAG	0.468																																						uc010rjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(721-723)GGT>TGT		olfactory receptor, family 5, subfamily M,							108.0	109.0	108.0					11																	56310013		2009	4184	6193	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310013C>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.721G>T	11.37:g.56310013C>A	ENSP00000432417:p.Gly241Cys						p.G241C	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	721	-			241			Helical; Name=6; (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.721G>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361744	0.41801	.	.	ENSG00000255223	ENST00000528616	T	0.37915	1.17	4.85	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59824	0.2222	M	0.85542	2.76	0.31169	N	0.703436	D	0.89917	1.0	D	0.78314	0.991	T	0.64512	-0.6390	9	0.87932	D	0	.	7.4089	0.27006	0.0:0.8089:0.0:0.1911	.	241	Q96RB7	OR5MB_HUMAN	C	241	ENSP00000432417:G241C	ENSP00000432417:G241C	G	-	1	0	OR5M11	56066589	0.000000	0.05858	0.998000	0.56505	0.714000	0.41099	-0.431000	0.06965	1.318000	0.45170	-0.162000	0.13425	GGT		PASS	0.468	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		24	80	24	80	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65394885	65394885	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:65394885G>T	ENST00000355703.3	+	22	4073	c.3534G>T	c.(3532-3534)gcG>gcT	p.A1178A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1178						integral component of membrane (GO:0016021)		p.A1178A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTGCCGGGCGCTGCTGATGA	0.662																																						uc001oey.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3532-3534)GCG>GCT		pecanex-like 3							50.0	54.0	52.0					11																	65394885		2098	4214	6312	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65394885G>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3534G>T	11.37:g.65394885G>T						PCNXL3_uc001oez.2_Silent_p.A65A	p.A1178A	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			22	3534	+			1178					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.3534G>T	CCDS44650.1																																																																																				PASS	0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		10	67	10	67	---	---	---	---
PC	5091	broad.mit.edu	37	11	66618590	66618590	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:66618590C>T	ENST00000393958.2	-	16	2237	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	PC_ENST00000393955.2_Missense_Mutation_p.R715H|PC_ENST00000393960.1_Missense_Mutation_p.R715H|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	715	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.R715H(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTACTTGGTGCGGCTGGGGTC	0.632																																						uc001ojn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(2143-2145)CGC>CAC		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						68.0	63.0	65.0					11																	66618590		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66618590C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2144G>A	11.37:g.66618590C>T	ENSP00000377530:p.Arg715His					PC_uc001ojo.1_Missense_Mutation_p.R715H|PC_uc001ojp.1_Missense_Mutation_p.R715H|PC_uc001ojm.1_5'Flank	p.R715H	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	2193	-		Melanoma(852;0.0525)	715			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2144G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056026	0.93793	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98028	-4.67;-4.67;-4.67	4.52	4.52	0.55395	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.98922	1.0784	10	0.66056	D	0.02	-24.4169	14.8168	0.70041	0.0:1.0:0.0:0.0	.	715	P11498	PYC_HUMAN	H	715	ENSP00000377527:R715H;ENSP00000377530:R715H;ENSP00000377532:R715H	ENSP00000377527:R715H	R	-	2	0	PC	66375166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.326000	0.52037	2.354000	0.79902	0.655000	0.94253	CGC		PASS	0.632	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		15	81	15	81	---	---	---	---
PRKRIR	5612	broad.mit.edu	37	11	76062891	76062891	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:76062891C>G	ENST00000260045.3	-	5	1408	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	435					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E435Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ACTAAAATTTCAAAAGCATCA	0.368																																						uc001oxh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1303-1305)GAA>CAA		protein-kinase, interferon-inducible double							31.0	33.0	32.0					11																	76062891		2193	4281	6474	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062891C>G	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1303G>C	11.37:g.76062891C>G	ENSP00000260045:p.Glu435Gln					PRKRIR_uc010rrz.1_Missense_Mutation_p.E260Q	p.E435Q	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1303	-			435					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1303G>C	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057437	0.55325	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.22945	1.93;1.93	4.99	4.06	0.47325	Ribonuclease H-like (1);	0.086053	0.85682	D	0.000000	T	0.32556	0.0833	M	0.66939	2.045	0.58432	D	0.999997	P	0.48503	0.911	P	0.46144	0.505	T	0.13926	-1.0491	10	0.15499	T	0.54	.	15.7607	0.78076	0.0:0.8631:0.1369:0.0	.	435	O43422	P52K_HUMAN	Q	260;435	ENSP00000436249:E260Q;ENSP00000260045:E435Q	ENSP00000260045:E435Q	E	-	1	0	PRKRIR	75740539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.057000	0.76669	1.249000	0.43950	0.644000	0.83932	GAA		PASS	0.368	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		12	101	12	101	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89907064	89907064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:89907064G>T	ENST00000534061.1	+	14	1713	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.E462*|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	495	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.E495*(1)|p.E495K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCTTCACCTGAAAATAAAAA	0.388																																						uc001pdf.3																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|skin(1)	pancreas(1)|skin(1)	2						c.(1483-1485)GAA>TAA		N-acetylated alpha-linked acidic dipeptidase 2							104.0	108.0	107.0					11																	89907064		2201	4299	6500	SO:0001587	stop_gained	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89907064G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1483G>T	11.37:g.89907064G>T	ENSP00000432481:p.Glu495*					NAALAD2_uc009yvx.2_Nonsense_Mutation_p.E462*|NAALAD2_uc009yvy.2_Intron	p.E495*	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			14	1592	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	495			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Nonsense_Mutation	SNP	ENST00000534061.1	37	c.1483G>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	39	7.521977	0.98335	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	.	.	.	5.95	4.08	0.47627	.	0.065590	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.1308	9.2447	0.37518	0.1322:0.1196:0.7482:0.0	.	.	.	.	X	495;462	.	.	E	+	1	0	NAALAD2	89546712	0.997000	0.39634	0.993000	0.49108	0.804000	0.45430	2.580000	0.46068	1.535000	0.49220	-0.136000	0.14681	GAA		PASS	0.388	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		32	244	32	244	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534346	92534346	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:92534346A>C	ENST00000298047.6	+	9	8184	c.8167A>C	c.(8167-8169)Att>Ctt	p.I2723L	FAT3_ENST00000409404.2_Missense_Mutation_p.I2723L|FAT3_ENST00000525166.1_Missense_Mutation_p.I2573L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2723	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2723L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATACAGCCATTGGGAGTAC	0.478										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8167-8169)ATT>CTT		FAT tumor suppressor homolog 3							66.0	63.0	64.0					11																	92534346		1950	4160	6110	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534346A>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8167A>C	11.37:g.92534346A>C	ENSP00000298047:p.Ile2723Leu	TCGA Ovarian(4;0.039)					p.I2723L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8184	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2723			Extracellular (Potential).|Cadherin 25.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8167A>C		.	.	.	.	.	.	.	.	.	.	A	13.51	2.259391	0.39995	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60797	0.16;0.16;0.16	5.98	5.98	0.97165	.	.	.	.	.	T	0.56202	0.1969	L	0.41906	1.305	0.80722	D	1	P	0.48350	0.909	P	0.47705	0.555	T	0.50980	-0.8763	9	0.21014	T	0.42	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	2723	Q8TDW7-3	.	L	2723;2723;2573	ENSP00000298047:I2723L;ENSP00000387040:I2723L;ENSP00000432586:I2573L	ENSP00000298047:I2723L	I	+	1	0	FAT3	92173994	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.757000	0.55212	2.288000	0.76882	0.482000	0.46254	ATT		PASS	0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	94	3	94	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94730904	94730904	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:94730904G>C	ENST00000335080.5	+	3	1200	c.368G>C	c.(367-369)cGa>cCa	p.R123P	KDM4D_ENST00000536741.1_Missense_Mutation_p.R123P	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	123					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R123P(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GATTTGGAGCGAAAATACTGG	0.408																																						uc001pfe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CGA>CCA		jumonji domain containing 2D							90.0	89.0	89.0					11																	94730904		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94730904G>C	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.368G>C	11.37:g.94730904G>C	ENSP00000334181:p.Arg123Pro						p.R123P	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1200	+			123					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.368G>C	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349406	0.82132	.	.	ENSG00000186280	ENST00000335080	T	0.50001	0.76	3.91	0.984	0.19773	.	0.000000	0.64402	U	0.000004	T	0.65491	0.2696	M	0.89287	3.02	0.31542	N	0.659863	D	0.69078	0.997	D	0.63283	0.913	T	0.69087	-0.5238	10	0.87932	D	0	-4.5235	7.8757	0.29592	0.2925:0.0:0.7075:0.0	.	123	Q6B0I6	KDM4D_HUMAN	P	123	ENSP00000334181:R123P	ENSP00000334181:R123P	R	+	2	0	KDM4D	94370552	1.000000	0.71417	0.000000	0.03702	0.809000	0.45718	4.932000	0.63476	0.230000	0.21059	0.563000	0.77884	CGA		PASS	0.408	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		27	199	27	199	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113679872	113679872	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:113679872C>G	ENST00000003302.4	-	17	2145	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q	USP28_ENST00000545540.1_Missense_Mutation_p.E568Q|USP28_ENST00000260188.5_Missense_Mutation_p.E693Q|USP28_ENST00000544967.1_Missense_Mutation_p.E401Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	693					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E693Q(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCCCACTCCTCTACTTCCTGC	0.473																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(2077-2079)GAG>CAG		ubiquitin specific protease 28							359.0	358.0	358.0					11																	113679872		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113679872C>G	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2077G>C	11.37:g.113679872C>G	ENSP00000003302:p.Glu693Gln					USP28_uc001pog.2_Missense_Mutation_p.E401Q|USP28_uc010rwy.1_Missense_Mutation_p.E568Q|USP28_uc001poi.2_Missense_Mutation_p.E48Q	p.E693Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	17	2110	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	693					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2077G>C	CCDS31680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.70|19.70	3.875811|3.875811	0.72180|0.72180	.|.	.|.	ENSG00000048028|ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540|ENST00000538224	T;T;T;T|.	0.51071|.	1.33;1.32;0.72;1.33|.	5.56|5.56	4.6|4.6	0.57074|0.57074	.|.	0.214643|.	0.51477|.	D|.	0.000088|.	T|T	0.53738|0.53738	0.1815|0.1815	L|L	0.52573|0.52573	1.65|1.65	0.32774|0.32774	N|N	0.503401|0.503401	P;B;D|.	0.60575|.	0.932;0.435;0.988|.	P;B;P|.	0.54174|.	0.454;0.097;0.744|.	T|T	0.61564|0.61564	-0.7037|-0.7037	10|5	0.40728|.	T|.	0.16|.	-24.0008|-24.0008	9.4198|9.4198	0.38544|0.38544	0.0:0.78:0.1451:0.0749|0.0:0.78:0.1451:0.0749	.|.	568;693;401|.	B4E3L3;Q96RU2;G3V1N5|.	.;UBP28_HUMAN;.|.	Q|T	693;693;401;568|9	ENSP00000003302:E693Q;ENSP00000260188:E693Q;ENSP00000442431:E401Q;ENSP00000444991:E568Q|.	ENSP00000003302:E693Q|.	E|R	-|-	1|2	0|0	USP28|USP28	113185082|113185082	0.993000|0.993000	0.37304|0.37304	0.982000|0.982000	0.44146|0.44146	0.950000|0.950000	0.60333|0.60333	2.939000|2.939000	0.48995|0.48995	2.609000|2.609000	0.88269|0.88269	0.563000|0.563000	0.77884|0.77884	GAG|AGA		PASS	0.473	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			120	653	120	653	---	---	---	---
HTR3B	9177	broad.mit.edu	37	11	113815332	113815332	+	Silent	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:113815332C>G	ENST00000260191.2	+	8	1202	c.945C>G	c.(943-945)ctC>ctG	p.L315L	HTR3B_ENST00000537778.1_Silent_p.L304L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	315					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.L315L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TCTTGGTTCTCAGCTTAGCTA	0.517																																						uc001pok.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(943-945)CTC>CTG		5-hydroxytryptamine (serotonin) receptor 3B							219.0	172.0	188.0					11																	113815332		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113815332C>G	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.945C>G	11.37:g.113815332C>G						HTR3B_uc001pol.2_Silent_p.L304L	p.L315L	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	8	1012	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	315			Helical; Name=3; (Potential).		B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.945C>G	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193842	0.58017	.	.	ENSG00000149305	ENST00000543092	.	.	.	5.11	3.24	0.37175	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53351	-0.8451	4	.	.	.	-13.4402	9.7388	0.40404	0.0:0.8394:0.0:0.1606	.	.	.	.	E	174	.	.	Q	+	1	0	HTR3B	113320542	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	1.916000	0.39986	0.565000	0.29255	0.655000	0.94253	CAG		PASS	0.517	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		13	125	13	125	---	---	---	---
NXPE4	54827	broad.mit.edu	37	11	114453569	114453569	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:114453569C>A	ENST00000375478.3	-	3	451	c.271G>T	c.(271-273)Gtg>Ttg	p.V91L	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	91						extracellular vesicular exosome (GO:0070062)		p.V91L(1)									GTGGTGTTCACGTGGGTGAAA	0.507																																						uc001ppc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(271-273)GTG>TTG		hypothetical protein LOC54827 isoform 1							295.0	290.0	292.0					11																	114453569		2142	4264	6406	SO:0001583	missense	54827					extracellular region		g.chr11:114453569C>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.271G>T	11.37:g.114453569C>A	ENSP00000364627:p.Val91Leu					FAM55D_uc001ppd.2_5'UTR	p.V91L	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	452	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	91					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.271G>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.699126	0.00097	.	.	ENSG00000137634	ENST00000375478	T	0.10763	2.84	4.86	-9.71	0.00518	.	1.554680	0.03967	N	0.290923	T	0.04724	0.0128	N	0.20357	0.565	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.31586	-0.9938	10	0.02654	T	1	.	6.0557	0.19811	0.1354:0.4871:0.2567:0.1208	.	91	Q6UWF7	FA55D_HUMAN	L	91	ENSP00000364627:V91L	ENSP00000364627:V91L	V	-	1	0	FAM55D	113958779	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.815000	0.00182	-3.930000	0.00090	-1.975000	0.00460	GTG		PASS	0.507	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		202	176	202	176	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118390362	118390362	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:118390362C>G	ENST00000389506.5	+	32	11167	c.11167C>G	c.(11167-11169)Ctc>Gtc	p.L3723V	RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.L3726V|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.L3685V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3723	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.L3726V(1)|p.L3723V(1)									GCTGGGGATTCTCCATGATGC	0.493																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(11167-11169)CTC>GTC		myeloid/lymphoid or mixed-lineage leukemia							221.0	198.0	206.0					11																	118390362		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118390362C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11167C>G	11.37:g.118390362C>G	ENSP00000374157:p.Leu3723Val					MLL_uc001ptb.2_Missense_Mutation_p.L3726V	p.L3723V	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	32	11190	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3723			FYR C-terminal.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.11167C>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989621	0.35131	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.44482	0.92;0.92;0.92	5.82	5.82	0.92795	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.129775	0.53938	D	0.000055	T	0.15565	0.0375	N	0.01048	-1.04	0.38759	D	0.954274	B;B	0.20550	0.046;0.046	B;B	0.23574	0.047;0.047	T	0.30416	-0.9979	10	0.12103	T	0.63	.	11.4576	0.50191	0.1461:0.7281:0.1258:0.0	.	3726;3723	E9PQG7;Q03164	.;MLL1_HUMAN	V	3726;3723;3685;2633	ENSP00000436786:L3726V;ENSP00000374157:L3723V;ENSP00000346516:L3685V	ENSP00000346516:L3685V	L	+	1	0	MLL	117895572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.382000	0.52463	2.756000	0.94617	0.563000	0.77884	CTC		PASS	0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		40	239	40	239	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122931507	122931507	+	Splice_Site	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:122931507C>G	ENST00000532636.1	-	3	325		c.e3-1		HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000533540.1_Splice_Site|HSPA8_ENST00000453788.2_Splice_Site|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534319.1_5'Flank|HSPA8_ENST00000526110.1_Splice_Site|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Splice_Site|HSPA8_ENST00000227378.3_Splice_Site|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.?(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CGTTTGGCATCTGTAAAAGGT	0.403																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2																			1	Unknown(1)		lung(1)	central_nervous_system(7)|lung(1)	8						c.e3-1		heat shock 70kDa protein 8 isoform 1							60.0	61.0	61.0					11																	122931507		2202	4299	6501	SO:0001630	splice_region_variant	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931507C>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.206-1G>C	11.37:g.122931507C>G						HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Splice_Site_p.D69_splice|HSPA8_uc010rzu.1_Intron|HSPA8_uc009zbd.1_Splice_Site_p.D69_splice|HSPA8_uc010rzv.1_Splice_Site_p.D69_splice	p.D69_splice	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	3	284	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						Q9H3R6	Splice_Site	SNP	ENST00000532636.1	37	c.206_splice	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094345	0.56075	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9022	0.86117	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA8	122436717	1.000000	0.71417	0.985000	0.45067	0.653000	0.38743	7.774000	0.85478	2.037000	0.60232	0.491000	0.48974	.		PASS	0.403	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1		Intron	5	115	5	115	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777167	123777167	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:123777167C>A	ENST00000321355.2	+	1	59	c.29C>A	c.(28-30)aCt>aAt	p.T10N		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T10N(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCCACAGTGACTGAGTTTCTT	0.403																																						uc010saa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(28-30)ACT>AAT		olfactory receptor, family 8, subfamily D,							77.0	73.0	74.0					11																	123777167		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777167C>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.29C>A	11.37:g.123777167C>A	ENSP00000325381:p.Thr10Asn						p.T10N	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	29	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	10			Extracellular (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.29C>A	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212055	0.39102	.	.	ENSG00000181518	ENST00000321355	T	0.00492	7.01	5.58	5.58	0.84498	.	0.142430	0.31897	N	0.006892	T	0.00784	0.0026	M	0.77103	2.36	0.31716	N	0.638906	B	0.24426	0.103	B	0.24394	0.053	T	0.04737	-1.0930	10	0.72032	D	0.01	.	13.3119	0.60384	0.1585:0.8415:0.0:0.0	.	10	Q8NGM9	OR8D4_HUMAN	N	10	ENSP00000325381:T10N	ENSP00000325381:T10N	T	+	2	0	OR8D4	123282377	0.204000	0.23447	0.960000	0.40013	0.772000	0.43724	0.510000	0.22723	2.601000	0.87937	0.655000	0.94253	ACT		PASS	0.403	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		45	129	45	129	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777593	123777593	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:123777593G>T	ENST00000321355.2	+	1	485	c.455G>T	c.(454-456)gGt>gTt	p.G152V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152V(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTCTCAGTAGGTTTCACTGAT	0.483																																						uc010saa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(454-456)GGT>GTT		olfactory receptor, family 8, subfamily D,							205.0	186.0	192.0					11																	123777593		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777593G>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.455G>T	11.37:g.123777593G>T	ENSP00000325381:p.Gly152Val						p.G152V	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	455	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	152			Helical; Name=4; (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.455G>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650488	0.47362	.	.	ENSG00000181518	ENST00000321355	T	0.39056	1.1	5.81	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000179	T	0.69700	0.3140	M	0.90595	3.13	0.26515	N	0.974538	D	0.89917	1.0	D	0.85130	0.997	T	0.68093	-0.5500	10	0.87932	D	0	.	14.0155	0.64521	0.0:0.2881:0.7119:0.0	.	152	Q8NGM9	OR8D4_HUMAN	V	152	ENSP00000325381:G152V	ENSP00000325381:G152V	G	+	2	0	OR8D4	123282803	0.972000	0.33761	0.010000	0.14722	0.939000	0.58152	2.138000	0.42140	0.749000	0.32854	0.655000	0.94253	GGT		PASS	0.483	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		60	249	60	249	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777642	123777642	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:123777642C>T	ENST00000321355.2	+	1	534	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168F(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GGTTGTCTTTCTGTGGATCAA	0.418																																						uc010saa.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(502-504)TTC>TTT		olfactory receptor, family 8, subfamily D,							220.0	214.0	216.0					11																	123777642		2202	4299	6501	SO:0001819	synonymous_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777642C>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.504C>T	11.37:g.123777642C>T							p.F168F	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	504	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	168			Extracellular (Potential).		Q6IFE9	Silent	SNP	ENST00000321355.2	37	c.504C>T	CCDS31698.1																																																																																				PASS	0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		156	322	156	322	---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124007928	124007928	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:124007928C>A	ENST00000456829.2	+	15	2083	c.1832C>A	c.(1831-1833)cCa>cAa	p.P611Q	VWA5A_ENST00000392748.1_Missense_Mutation_p.P611Q|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	611								p.P611Q(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTCCCAAGGCCAATTCTGTTG	0.438																																						uc001pzu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1831-1833)CCA>CAA		BCSC-1 isoform 1							63.0	66.0	65.0					11																	124007928		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007928C>A	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1832C>A	11.37:g.124007928C>A	ENSP00000407726:p.Pro611Gln					VWA5A_uc001pzt.2_Missense_Mutation_p.P611Q	p.P611Q	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			15	2041	+			611					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1832C>A	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987055	0.74589	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04234	3.67;3.67	4.98	4.98	0.66077	.	0.171888	0.52532	D	0.000079	T	0.17492	0.0420	M	0.84511	2.7	0.80722	D	1	P	0.45011	0.848	P	0.53450	0.726	T	0.09465	-1.0673	10	0.16420	T	0.52	-9.7227	16.0933	0.81104	0.0:1.0:0.0:0.0	.	611	O00534	VMA5A_HUMAN	Q	611	ENSP00000407726:P611Q;ENSP00000376504:P611Q	ENSP00000376504:P611Q	P	+	2	0	VWA5A	123513138	0.189000	0.23263	0.530000	0.27963	0.037000	0.13140	2.916000	0.48813	2.464000	0.83262	0.650000	0.86243	CCA		PASS	0.438	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		17	130	17	130	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294691	124294691	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:124294691G>T	ENST00000356130.3	-	1	98	c.77C>A	c.(76-78)cCt>cAt	p.P26H		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P26H(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGAAAAGAGGGAGCTGGAG	0.488																																						uc010sak.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(76-78)CCT>CAT		olfactory receptor, family 8, subfamily B,							56.0	54.0	55.0					11																	124294691		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294691G>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.77C>A	11.37:g.124294691G>T	ENSP00000348449:p.Pro26His						p.P26H	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	77	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	26			Helical; Name=1; (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.77C>A	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	9.777	1.174285	0.21704	.	.	ENSG00000198657	ENST00000356130	T	0.00433	7.43	4.62	1.66	0.24008	.	0.121047	0.37761	N	0.001958	T	0.00845	0.0028	M	0.87097	2.86	0.09310	N	1	D	0.67145	0.996	P	0.61874	0.895	T	0.47100	-0.9143	10	0.87932	D	0	.	2.2542	0.04051	0.363:0.0:0.4084:0.2285	.	26	Q96RC9	OR8B4_HUMAN	H	26	ENSP00000348449:P26H	ENSP00000348449:P26H	P	-	2	0	OR8B4	123799901	0.000000	0.05858	0.133000	0.22050	0.153000	0.21895	0.196000	0.17176	0.654000	0.30846	0.655000	0.94253	CCT		PASS	0.488	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		29	75	29	75	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440531	124440531	+	Silent	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:124440531C>G	ENST00000284287.3	+	1	639	c.567C>G	c.(565-567)ctC>ctG	p.L189L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	189					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L189L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTGAGCACCTCATCAGTCACT	0.498																																						uc010san.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(565-567)CTC>CTG		olfactory receptor, family 8, subfamily A,							155.0	142.0	146.0					11																	124440531		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440531C>G	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.567C>G	11.37:g.124440531C>G							p.L189L	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	567	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	189			Extracellular (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.567C>G	CCDS31712.1																																																																																				PASS	0.498	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		48	161	48	161	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440627	124440627	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:124440627C>T	ENST00000284287.3	+	1	735	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	221					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F221F(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CGGCTGGATTCAACATCATAG	0.473																																						uc010san.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(661-663)TTC>TTT		olfactory receptor, family 8, subfamily A,							120.0	115.0	116.0					11																	124440627		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440627C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.663C>T	11.37:g.124440627C>T							p.F221F	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	663	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	221			Extracellular (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.663C>T	CCDS31712.1																																																																																				PASS	0.473	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		38	133	38	133	---	---	---	---
PANX3	116337	broad.mit.edu	37	11	124481499	124481499	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:124481499T>C	ENST00000284288.2	+	1	114	c.47T>C	c.(46-48)cTg>cCg	p.L16P		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	16					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.L16P(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TCAGATGCCCTGCTGCCTGAC	0.617																																						uc001qah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)CTG>CCG		pannexin 3							91.0	81.0	85.0					11																	124481499		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124481499T>C	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.47T>C	11.37:g.124481499T>C	ENSP00000284288:p.Leu16Pro						p.L16P	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	1	47	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	16			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.47T>C	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348613	0.82132	.	.	ENSG00000154143	ENST00000284288	T	0.48522	0.81	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.65635	-0.6120	10	0.87932	D	0	-6.5672	14.8204	0.70068	0.0:0.0:0.0:1.0	.	16	Q96QZ0	PANX3_HUMAN	P	16	ENSP00000284288:L16P	ENSP00000284288:L16P	L	+	2	0	PANX3	123986709	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.759000	0.85235	2.085000	0.62840	0.533000	0.62120	CTG		PASS	0.617	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			9	56	9	56	---	---	---	---
MSANTD2	79684	broad.mit.edu	37	11	124637400	124637400	+	Missense_Mutation	SNP	C	C	A	rs557249865		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr11:124637400C>A	ENST00000374979.3	-	4	1360	c.1352G>T	c.(1351-1353)cGg>cTg	p.R451L	MSANTD2_ENST00000239614.4_Missense_Mutation_p.R399L|MSANTD2_ENST00000524950.1_3'UTR|RP11-677M14.3_ENST00000532579.1_RNA|MSANTD2_ENST00000526629.1_Missense_Mutation_p.R221L|RP11-677M14.3_ENST00000504932.2_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	451								p.R399L(2)									CAGGTCAACCCGGCCCTCTTT	0.507																																						uc001qba.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1351-1353)CGG>CTG		hypothetical protein LOC79684							111.0	121.0	118.0					11																	124637400		2201	4299	6500	SO:0001583	missense	79684							g.chr11:124637400C>A	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1352G>T	11.37:g.124637400C>A	ENSP00000364118:p.Arg451Leu					C11orf61_uc001qaz.1_Missense_Mutation_p.R399L|C11orf61_uc010sap.1_Missense_Mutation_p.R171L|C11orf61_uc001qay.1_Missense_Mutation_p.R221L	p.R451L	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)	4	1375	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	451					B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	ENST00000374979.3	37	c.1352G>T		.	.	.	.	.	.	.	.	.	.	C	11.26	1.585114	0.28268	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	6.08	5.17	0.71159	.	0.431857	0.23612	N	0.046335	T	0.33789	0.0875	N	0.19112	0.55	0.37753	D	0.926045	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.26608	-1.0098	9	0.41790	T	0.15	-7.2968	5.6528	0.17627	0.1349:0.6428:0.1469:0.0754	.	451;399	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	L	399;451;221	.	ENSP00000239614:R399L	R	-	2	0	C11orf61	124142610	0.005000	0.15991	0.936000	0.37596	0.995000	0.86356	0.073000	0.14640	1.575000	0.49775	0.591000	0.81541	CGG		PASS	0.507	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631		197	178	197	178	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	992672	992672	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:992672G>C	ENST00000315939.6	+	16	4244	c.3601G>C	c.(3601-3603)Gag>Cag	p.E1201Q	WNK1_ENST00000530271.2_Missense_Mutation_p.E1699Q|WNK1_ENST00000340908.4_Missense_Mutation_p.E794Q|WNK1_ENST00000535572.1_Missense_Mutation_p.E954Q|WNK1_ENST00000537687.1_Missense_Mutation_p.E1461Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1201					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.E1461Q(1)|p.E1201Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGTGGAACCAGAGGGTGATCA	0.423																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3601-3603)GAG>CAG		WNK lysine deficient protein kinase 1							148.0	157.0	154.0					12																	992672		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:992672G>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3601G>C	12.37:g.992672G>C	ENSP00000313059:p.Glu1201Gln					WNK1_uc001qip.3_Missense_Mutation_p.E954Q|WNK1_uc001qir.3_Missense_Mutation_p.E374Q	p.E1201Q	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		16	4108	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1201					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3601G>C	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813044	0.70912	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	T	0.45296	0.1335	L	0.27053	0.805	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.991	T	0.28170	-1.0052	10	0.38643	T	0.18	-15.3841	19.6155	0.95632	0.0:0.0:1.0:0.0	.	954;954;1201	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Q	954;1201;1461;374;1699;794;101	ENSP00000441972:E954Q;ENSP00000313059:E1201Q;ENSP00000444465:E1461Q;ENSP00000433548:E1699Q;ENSP00000341292:E794Q;ENSP00000446253:E101Q	ENSP00000252477:E374Q	E	+	1	0	WNK1	862933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.621000	0.88768	0.585000	0.79938	GAG		PASS	0.423	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		32	142	32	142	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1005368	1005368	+	Silent	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:1005368G>C	ENST00000315939.6	+	24	6358	c.5715G>C	c.(5713-5715)gtG>gtC	p.V1905V	WNK1_ENST00000530271.2_Silent_p.V2403V|WNK1_ENST00000340908.4_Silent_p.V1498V|WNK1_ENST00000535572.1_Silent_p.V1657V|WNK1_ENST00000537687.1_Silent_p.V2165V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1905					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.V2165V(1)|p.V1905V(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTACCTTGGTGAAACCAGAGC	0.473																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - coding silent(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(5713-5715)GTG>GTC		WNK lysine deficient protein kinase 1							86.0	83.0	84.0					12																	1005368		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1005368G>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5715G>C	12.37:g.1005368G>C						WNK1_uc001qip.3_Silent_p.V1657V|WNK1_uc001qir.3_Silent_p.V1078V	p.V1905V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		24	6222	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1905					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.5715G>C	CCDS8506.1																																																																																				PASS	0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		24	91	24	91	---	---	---	---
TSPAN9	10867	broad.mit.edu	37	12	3389621	3389621	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:3389621A>G	ENST00000011898.5	+	6	565	c.404A>G	c.(403-405)aAg>aGg	p.K135R	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.K135R|TSPAN9_ENST00000407263.1_Missense_Mutation_p.K135R	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	135						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)		p.K135R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GTGGGGCTGAAGAACGCCTGG	0.647																																						uc001qlp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)AAG>AGG		tetraspanin 9							124.0	88.0	101.0					12																	3389621		2203	4300	6503	SO:0001583	missense	10867					integral to plasma membrane|membrane fraction		g.chr12:3389621A>G	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.404A>G	12.37:g.3389621A>G	ENSP00000011898:p.Lys135Arg						p.K135R	NM_006675	NP_006666	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		6	551	+			135			Extracellular (Potential).		D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	c.404A>G	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	a	12.41	1.930919	0.34096	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.80123	-1.34;-1.34;-1.34	4.79	3.65	0.41850	Tetraspanin, EC2 domain (1);	0.204169	0.49305	N	0.000160	T	0.55893	0.1949	N	0.03268	-0.37	0.28020	N	0.934564	B	0.06786	0.001	B	0.15052	0.012	T	0.43475	-0.9389	10	0.16420	T	0.52	.	8.4022	0.32592	0.9047:0.0:0.0953:0.0	.	135	O75954	TSN9_HUMAN	R	135	ENSP00000444799:K135R;ENSP00000011898:K135R;ENSP00000384488:K135R	ENSP00000011898:K135R	K	+	2	0	TSPAN9	3259882	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	3.332000	0.52083	0.696000	0.31696	0.375000	0.23000	AAG		PASS	0.647	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		18	29	18	29	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5153871	5153871	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:5153871G>A	ENST00000252321.3	+	1	787	c.558G>A	c.(556-558)cgG>cgA	p.R186R		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	186					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.R186R(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCCGCCTGCGGAGGCCGGTCA	0.637																																						uc001qni.2																			2	Substitution - coding silent(2)	p.R186R(1)	ovary(1)|lung(1)	ovary(2)|breast(2)	4						c.(556-558)CGG>CGA		potassium voltage-gated channel, shaker-related							36.0	40.0	39.0					12																	5153871		2203	4300	6503	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153871G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.558G>A	12.37:g.5153871G>A							p.R186R	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	787	+			186					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.558G>A	CCDS8536.1																																																																																				PASS	0.637	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		10	52	10	52	---	---	---	---
FAM90A1	55138	broad.mit.edu	37	12	8376803	8376803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:8376803G>T	ENST00000538603.1	-	5	690	c.132C>A	c.(130-132)tgC>tgA	p.C44*	FAM90A1_ENST00000307435.6_Nonsense_Mutation_p.C44*	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	44							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C44*(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CACAGTTTTTGCACTTGAGCT	0.542																																						uc001qui.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(130-132)TGC>TGA		hypothetical protein LOC55138							35.0	39.0	38.0					12																	8376803		2201	4297	6498	SO:0001587	stop_gained	55138						nucleic acid binding|zinc ion binding	g.chr12:8376803G>T	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.132C>A	12.37:g.8376803G>T	ENSP00000445418:p.Cys44*					FAM90A1_uc001quh.2_Nonsense_Mutation_p.C44*	p.C44*	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	5	691	-			44					D3DUU9|Q9NVZ6	Nonsense_Mutation	SNP	ENST00000538603.1	37	c.132C>A	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.430210	0.83776	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	.	.	.	0.706	-1.41	0.08941	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.6707	.	.	.	rs35310387	.	.	.	X	44	.	ENSP00000307798:C44X	C	-	3	2	FAM90A1	8268070	0.019000	0.18553	0.011000	0.14972	0.009000	0.06853	0.297000	0.19101	-1.034000	0.03295	-1.106000	0.02097	TGC		PASS	0.542	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		33	106	33	106	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14633984	14633984	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:14633984A>C	ENST00000540793.1	+	12	3300	c.3145A>C	c.(3145-3147)Aca>Cca	p.T1049P	ATF7IP_ENST00000261168.4_Missense_Mutation_p.T1049P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.T1048P|ATF7IP_ENST00000544627.1_Missense_Mutation_p.T1057P|ATF7IP_ENST00000543189.1_Missense_Mutation_p.T1048P			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1049					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.T1049P(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCAGGTGACCACAAGACTCCC	0.458																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(3145-3147)ACA>CCA		activating transcription factor 7 interacting							106.0	106.0	106.0					12																	14633984		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14633984A>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3145A>C	12.37:g.14633984A>C	ENSP00000444589:p.Thr1049Pro					ATF7IP_uc001rbv.1_Missense_Mutation_p.T1048P|ATF7IP_uc001rbx.2_Missense_Mutation_p.T1048P|ATF7IP_uc001rby.3_Missense_Mutation_p.T1049P|ATF7IP_uc001rca.2_Missense_Mutation_p.T1049P	p.T1049P	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			13	3303	+			1049					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3145A>C	CCDS8663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.64|13.64	2.296540|2.296540	0.40594|0.40594	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000535738|ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.|T;T;T;T;T	.|0.20200	.|2.12;2.09;2.12;2.12;2.12	5.43|5.43	3.05|3.05	0.35203|0.35203	.|.	.|0.115428	.|0.43579	.|D	.|0.000547	T|T	0.16085|0.16085	0.0387|0.0387	L|L	0.54323|0.54323	1.7|1.7	0.36376|0.36376	D|D	0.86159|0.86159	.|B;B;B	.|0.21381	.|0.055;0.055;0.011	.|B;B;B	.|0.20577	.|0.03;0.03;0.011	T|T	0.18493|0.18493	-1.0335|-1.0335	5|10	.|0.48119	.|T	.|0.1	-13.5566|-13.5566	1.2545|1.2545	0.01989|0.01989	0.4515:0.2632:0.142:0.1434|0.4515:0.2632:0.142:0.1434	.|.	.|1048;1049;1048	.|G3V1U0;Q6VMQ6;Q6VMQ6-2	.|.;MCAF1_HUMAN;.	P|P	62|1049;1048;1048;1057;1049	.|ENSP00000261168:T1049P;ENSP00000443179:T1048P;ENSP00000445955:T1048P;ENSP00000440440:T1057P;ENSP00000444589:T1049P	.|ENSP00000261168:T1049P	H|T	+|+	2|1	0|0	ATF7IP|ATF7IP	14525251|14525251	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	1.071000|1.071000	0.30666|0.30666	0.971000|0.971000	0.38288|0.38288	-0.336000|-0.336000	0.08194|0.08194	CAC|ACA		PASS	0.458	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		69	124	69	124	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21377756	21377756	+	Silent	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:21377756T>C	ENST00000256958.2	+	14	1944	c.1848T>C	c.(1846-1848)taT>taC	p.Y616Y		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	616					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Y616Y(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTAGGACATATAATTCCACAT	0.303																																						uc001req.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1846-1848)TAT>TAC		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						119.0	115.0	116.0					12																	21377756		2203	4300	6503	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21377756T>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1848T>C	12.37:g.21377756T>C							p.Y616Y	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			14	1952	+			616			Extracellular (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.1848T>C	CCDS8685.1																																																																																				PASS	0.303	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		58	62	58	62	---	---	---	---
GOLT1B	51026	broad.mit.edu	37	12	21661455	21661455	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:21661455G>T	ENST00000229314.5	+	3	365	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.G86C|GOLT1B_ENST00000542038.1_Missense_Mutation_p.G22C	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	86	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)	p.G86C(1)		large_intestine(2)|lung(3)	5						GCCTTTGATAGGCATGATCTT	0.333																																						uc001rez.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)GGC>TGC		golgi transport 1 homolog B							115.0	113.0	114.0					12																	21661455		2203	4298	6501	SO:0001583	missense	51026				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity	g.chr12:21661455G>T	AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"""golgi transport 1 homolog B (S. cerevisiae)"""			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.256G>T	12.37:g.21661455G>T	ENSP00000229314:p.Gly86Cys					GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_Intron	p.G86C	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN			3	415	+			86			Phe-rich.|Helical; Name=3; (Potential).		B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Missense_Mutation	SNP	ENST00000229314.5	37	c.256G>T	CCDS8689.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944152	0.92593	.	.	ENSG00000111711	ENST00000542038;ENST00000540141;ENST00000229314	T;T;T	0.52983	0.64;0.64;0.64	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85853	0.1405	10	0.87932	D	0	-3.2635	20.2789	0.98501	0.0:0.0:1.0:0.0	.	86	Q9Y3E0	GOT1B_HUMAN	C	22;86;86	ENSP00000446231:G22C;ENSP00000437351:G86C;ENSP00000229314:G86C	ENSP00000229314:G86C	G	+	1	0	GOLT1B	21552722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.820000	0.99359	2.788000	0.95919	0.650000	0.86243	GGC		PASS	0.333	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	NM_016072		52	101	52	101	---	---	---	---
TSPAN11	441631	broad.mit.edu	37	12	31144836	31144836	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:31144836C>T	ENST00000261177.9	+	8	807	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	TSPAN11_ENST00000546076.1_Missense_Mutation_p.R250W|TSPAN11_ENST00000544427.1_Missense_Mutation_p.R240W|TSPAN11_ENST00000535215.1_Missense_Mutation_p.R179W	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	250						integral component of membrane (GO:0016021)		p.R250W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAGGCTCCAGCGGCATTTTTA	0.552																																						uc010sju.1																			1	Substitution - Missense(1)		lung(1)		0						c.(748-750)CGG>TGG		tetraspanin 11							121.0	106.0	111.0					12																	31144836		2203	4300	6503	SO:0001583	missense	441631					integral to membrane		g.chr12:31144836C>T		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.748C>T	12.37:g.31144836C>T	ENSP00000261177:p.Arg250Trp					TSPAN11_uc001rjp.2_Missense_Mutation_p.R250W|TSPAN11_uc010sjv.1_Missense_Mutation_p.R240W	p.R250W	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN			8	1128	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		250					A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	c.748C>T	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816784	0.32145	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	T;T;T;T	0.49139	1.11;0.79;1.04;1.11	3.6	2.61	0.31194	.	.	.	.	.	T	0.53110	0.1776	L	0.56199	1.76	0.26613	N	0.972792	D;D	0.57257	0.979;0.958	P;B	0.54924	0.764;0.339	T	0.41875	-0.9484	9	0.66056	D	0.02	.	8.5973	0.33723	0.2276:0.7724:0.0:0.0	.	240;250	F5H0F0;A1L157	.;TSN11_HUMAN	W	250;179;240;250	ENSP00000437403:R250W;ENSP00000445503:R179W;ENSP00000439895:R240W;ENSP00000261177:R250W	ENSP00000261177:R250W	R	+	1	2	TSPAN11	31036103	0.275000	0.24201	0.859000	0.33776	0.581000	0.36288	-0.183000	0.09712	1.705000	0.51264	0.313000	0.20887	CGG		PASS	0.552	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		16	63	16	63	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43822454	43822454	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:43822454G>A	ENST00000389420.3	-	25	3637	c.3638C>T	c.(3637-3639)gCa>gTa	p.A1213V	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A331V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1213V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1213	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1213V(1)|p.A1213E(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCAATCCCCTGCTTGCCACTC	0.348																																						uc010skx.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3637-3639)GCA>GTA		a disintegrin-like and metalloprotease with							50.0	46.0	47.0					12																	43822454		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822454G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3638C>T	12.37:g.43822454G>A	ENSP00000374071:p.Ala1213Val					ADAMTS20_uc001rno.1_Missense_Mutation_p.A331V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.A367V	p.A1213V	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	25	3638	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1213			TSP type-1 8.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3638C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213114	0.39102	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.2	4.32	0.51571	.	0.413435	0.19620	N	0.109929	T	0.42653	0.1212	N	0.16066	0.365	0.35948	D	0.833731	B;B	0.23128	0.08;0.078	B;B	0.35655	0.158;0.207	T	0.44345	-0.9334	10	0.14252	T	0.57	.	11.5004	0.50435	0.1609:0.0:0.8391:0.0	.	1213;331	P59510;E9PBD5	ATS20_HUMAN;.	V	1213;343;331;1213;1213	ENSP00000374071:A1213V;ENSP00000447427:A343V;ENSP00000378911:A331V;ENSP00000448341:A1213V	ENSP00000374068:A1213V	A	-	2	0	ADAMTS20	42108721	1.000000	0.71417	0.947000	0.38551	0.961000	0.63080	3.413000	0.52686	1.517000	0.48917	0.585000	0.79938	GCA		PASS	0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		30	33	30	33	---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54799710	54799710	+	Splice_Site	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:54799710C>A	ENST00000293379.4	-	10	1168	c.907G>T	c.(907-909)Gtc>Ttc	p.V303F	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	303					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.V303F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGGATGGTGACCTGGGAGATG	0.522																																						uc001sga.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(907-909)GTC>TTC		integrin alpha 5 precursor							115.0	103.0	107.0					12																	54799710		2203	4300	6503	SO:0001630	splice_region_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54799710C>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.907-1G>T	12.37:g.54799710C>A						ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	p.V303F	NM_002205	NP_002196	P08648	ITA5_HUMAN			10	975	-			303			Extracellular (Potential).|FG-GAP 4.		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.907G>T	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637464	0.87760	.	.	ENSG00000161638	ENST00000293379	T	0.28666	1.6	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000002	T	0.66386	0.2784	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76537	-0.2923	10	0.87932	D	0	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	303	P08648	ITA5_HUMAN	F	303	ENSP00000293379:V303F	ENSP00000293379:V303F	V	-	1	0	ITGA5	53085977	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.283000	0.72646	2.677000	0.91161	0.561000	0.74099	GTC		PASS	0.522	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		Missense_Mutation	26	96	26	96	---	---	---	---
OR9K2	441639	broad.mit.edu	37	12	55524230	55524230	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:55524230C>T	ENST00000305377.5	+	1	766	c.678C>T	c.(676-678)tcC>tcT	p.S226S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S226S(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TATCTTTTTCCTTATCATGTA	0.363																																						uc010spe.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(676-678)TCC>TCT		olfactory receptor, family 9, subfamily K,							99.0	94.0	95.0					12																	55524230		2203	4300	6503	SO:0001819	synonymous_variant	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524230C>T	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.678C>T	12.37:g.55524230C>T							p.S226S	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	678	+			226			Helical; Name=5; (Potential).		B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	37	c.678C>T	CCDS31814.1																																																																																				PASS	0.363	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			38	124	38	124	---	---	---	---
GLIPR1L1	256710	broad.mit.edu	37	12	75741445	75741445	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:75741445T>C	ENST00000378695.4	+	3	554	c.464T>C	c.(463-465)aTg>aCg	p.M155T	GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.M155T|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	155	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)		p.M155T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						GCAGTTGCAATGTGTCCTAAC	0.333																																						uc001sxo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)ATG>ACG		GLI pathogenesis-related 1 like 1							162.0	157.0	159.0					12																	75741445		2203	4300	6503	SO:0001583	missense	256710					extracellular region		g.chr12:75741445T>C	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.464T>C	12.37:g.75741445T>C	ENSP00000367967:p.Met155Thr					CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.M155T	p.M155T	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN			3	510	+			155					Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37	c.464T>C		.	.	.	.	.	.	.	.	.	.	T	5.211	0.224392	0.09863	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.06068	3.35;3.35	5.13	-2.04	0.07343	CAP domain (3);	1.730420	0.02895	N	0.134601	T	0.03053	0.0090	N	0.05050	-0.12	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.0	T	0.39482	-0.9612	10	0.22706	T	0.39	.	3.3629	0.07193	0.2749:0.2374:0.0:0.4877	.	155;155	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	T	155	ENSP00000367967:M155T;ENSP00000310770:M155T	ENSP00000310770:M155T	M	+	2	0	GLIPR1L1	74027712	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.825000	0.04433	-0.537000	0.06290	-1.531000	0.00922	ATG		PASS	0.333	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		36	176	36	176	---	---	---	---
GLIPR1L2	144321	broad.mit.edu	37	12	75804237	75804237	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:75804237G>A	ENST00000550916.1	+	2	305	c.258G>A	c.(256-258)cgG>cgA	p.R86R	GLIPR1L2_ENST00000320460.4_Silent_p.R86R|GLIPR1L2_ENST00000547164.1_Silent_p.R86R|GLIPR1L2_ENST00000435775.1_Silent_p.R86R|GLIPR1L2_ENST00000441218.1_Silent_p.R21R|GLIPR1L2_ENST00000378692.3_5'UTR	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	86	SCP.					integral component of membrane (GO:0016021)		p.R86R(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTATCACGGACTGCTAGAG	0.284																																						uc001sxr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(256-258)CGG>CGA		GLI pathogenesis-related 1 like 2							81.0	81.0	81.0					12																	75804237		2199	4297	6496	SO:0001819	synonymous_variant	144321					integral to membrane		g.chr12:75804237G>A	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.258G>A	12.37:g.75804237G>A						GLIPR1L2_uc001sxp.1_Silent_p.R86R|GLIPR1L2_uc001sxq.1_5'UTR	p.R86R	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN			2	266	+			86					Q6MZS1|Q8N6N0|Q8NA43	Silent	SNP	ENST00000550916.1	37	c.258G>A	CCDS58258.1																																																																																				PASS	0.284	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		41	71	41	71	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77222220	77222220	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:77222220T>C	ENST00000426126.2	+	10	1740	c.1091T>C	c.(1090-1092)tTg>tCg	p.L364S	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.L364S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	364					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.L364S(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GGGATATATTTGGCAACCAAA	0.313																																						uc001syk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)TTG>TCG		huntingtin interacting protein 14							308.0	295.0	299.0					12																	77222220		1839	4084	5923	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77222220T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1091T>C	12.37:g.77222220T>C	ENSP00000403397:p.Leu364Ser						p.L364S	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			10	1254	+			364			Helical; (Potential).		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1091T>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604489	0.66445	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.36157	1.27;1.27	5.72	5.72	0.89469	.	0.494698	0.22393	N	0.060652	T	0.32285	0.0824	L	0.41492	1.28	0.80722	D	1	B	0.25351	0.124	B	0.20767	0.031	T	0.04885	-1.0920	10	0.34782	T	0.22	-9.2643	16.0023	0.80306	0.0:0.0:0.0:1.0	.	364	Q8IUH5	ZDH17_HUMAN	S	364	ENSP00000403397:L364S;ENSP00000334868:L364S	ENSP00000334868:L364S	L	+	2	0	ZDHHC17	75746351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.177000	0.69029	0.533000	0.62120	TTG		PASS	0.313	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		96	371	96	371	---	---	---	---
LIN7A	8825	broad.mit.edu	37	12	81205391	81205391	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:81205391C>A	ENST00000552864.1	-	5	757	c.555G>T	c.(553-555)gtG>gtT	p.V185V		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	185	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)	p.V185V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGTATCGCACCACCAGCTTGA	0.488																																						uc001szj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(553-555)GTG>GTT		lin-7 homolog A							132.0	114.0	120.0					12																	81205391		2203	4300	6503	SO:0001819	synonymous_variant	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81205391C>A	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.555G>T	12.37:g.81205391C>A						LIN7A_uc001szk.1_RNA	p.V185V	NM_004664	NP_004655	O14910	LIN7A_HUMAN			5	748	-			185			PDZ.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	c.555G>T	CCDS9021.1																																																																																				PASS	0.488	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			22	116	22	116	---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101873408	101873409	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:101873408_101873409GA>TT	ENST00000551346.1	+	4	305_306	c.146_147GA>TT	c.(145-147)gGA>gTT	p.G49V	SPIC_ENST00000299272.5_Missense_Mutation_p.G49V			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	49					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G49V(2)|p.G49G(1)|p.G49E(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CATGTCAAAGGAAATTCCAGCT	0.361																																						uc001tid.2																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(3)|skin(1)	skin(1)	1						c.(145-147)GGA>GTA|c.(145-147)GGA>GGT		Spi-C transcription factor (Spi-1/PU.1 related)																																				SO:0001583	missense	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101873408G>T|g.chr12:101873409A>T	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	Exception_encountered	12.37:g.101873408_101873409delinsTT	ENSP00000448580:p.Gly49Val					SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.G48V|SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Silent_p.G48G	p.G49V|p.G49G	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			4	305|306	+			49						Missense_Mutation|Silent	SNP	ENST00000551346.1	37	c.146G>T|c.147A>T	CCDS9082.1																																																																																				PASS	0.361	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		44|45	52|54	44	52	---	---	---	---
PARPBP	55010	broad.mit.edu	37	12	102589768	102589768	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:102589768C>T	ENST00000358383.5	+	11	1484	c.1439C>T	c.(1438-1440)aCg>aTg	p.T480M	PARPBP_ENST00000541394.1_Missense_Mutation_p.T557M|PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000543784.1_Silent_p.N173N|PARPBP_ENST00000327680.2_Missense_Mutation_p.T399M|PARPBP_ENST00000392911.2_Missense_Mutation_p.T399M|PARPBP_ENST00000378128.3_Silent_p.N287N			Q9NWS1	PARI_HUMAN	PARP1 binding protein	480					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T480M(1)|p.T399M(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						ACAATTGGAACGAGTTTTGGA	0.338																																						uc001tjf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1438-1440)ACG>ATG		hypothetical protein LOC55010							54.0	54.0	54.0					12																	102589768		2202	4296	6498	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102589768C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1439C>T	12.37:g.102589768C>T	ENSP00000351153:p.Thr480Met					C12orf48_uc001tjg.2_Missense_Mutation_p.T399M|C12orf48_uc010swa.1_Missense_Mutation_p.T557M|C12orf48_uc001tjh.2_Missense_Mutation_p.T399M|C12orf48_uc010swb.1_Silent_p.N173N|C12orf48_uc009zuc.2_Missense_Mutation_p.T34M|C12orf48_uc001tjj.2_Missense_Mutation_p.T195M|C12orf48_uc001tjk.2_3'UTR|C12orf48_uc009zud.2_Silent_p.N287N	p.T480M	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			11	1551	+			480					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.1439C>T	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	4.719	0.133686	0.09032	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.17	0.257	0.15574	.	0.673748	0.16001	N	0.234337	T	0.27098	0.0664	L	0.34521	1.04	0.19300	N	0.999977	B;B;B	0.25390	0.018;0.083;0.125	B;B;B	0.23150	0.019;0.028;0.044	T	0.13710	-1.0499	10	0.39692	T	0.17	-0.4521	6.4864	0.22091	0.1162:0.5516:0.0:0.3322	.	557;195;480	B4DZ31;Q9NWS1-5;Q9NWS1	.;.;PR1BP_HUMAN	M	399;557;480;399	ENSP00000332915:T399M;ENSP00000440850:T557M;ENSP00000351153:T480M;ENSP00000376643:T399M	ENSP00000332915:T399M	T	+	2	0	C12orf48	101113898	0.893000	0.30496	0.025000	0.17156	0.591000	0.36615	0.944000	0.29043	-0.236000	0.09753	-1.966000	0.00469	ACG		PASS	0.338	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		14	37	14	37	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104067755	104067755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:104067755C>A	ENST00000388887.2	+	23	2646	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*		NM_017564.9	NP_060034.9			stabilin 2									p.C814*(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGCACATGCAGAGACGGCT	0.567																																						uc001tjw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(5)	14						c.(2440-2442)TGC>TGA		stabilin 2 precursor							99.0	83.0	89.0					12																	104067755		2203	4300	6503	SO:0001587	stop_gained	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104067755C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2442C>A	12.37:g.104067755C>A	ENSP00000373539:p.Cys814*						p.C814*	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			23	2628	+			814			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000388887.2	37	c.2442C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	43	10.521589	0.99420	.	.	ENSG00000136011	ENST00000388887	.	.	.	5.42	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9768	0.64277	0.0:0.9111:0.0:0.0889	.	.	.	.	X	814	.	ENSP00000373539:C814X	C	+	3	2	STAB2	102591885	0.961000	0.32948	0.884000	0.34674	0.853000	0.48598	2.041000	0.41213	2.539000	0.85634	0.561000	0.74099	TGC		PASS	0.567	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			10	62	10	62	---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107486612	107486612	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:107486612C>G	ENST00000008527.5	-	1	995	c.128G>C	c.(127-129)gGc>gCc	p.G43A	CRY1_ENST00000550633.1_5'UTR|RP11-797M17.1_ENST00000547679.1_RNA	NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	43	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.G43A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATTGGAGGAGCCGGCGAACCA	0.577											OREG0022082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tmi.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(127-129)GGC>GCC		cryptochrome 1 (photolyase-like)							34.0	31.0	32.0					12																	107486612		2201	4300	6501	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107486612C>G	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.128G>C	12.37:g.107486612C>G	ENSP00000008527:p.Gly43Ala		OREG0022082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1405		p.G43A	NM_004075	NP_004066	Q16526	CRY1_HUMAN			1	987	-			43			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.128G>C	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648096	0.47258	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.71	3.83	0.44106	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	L	0.46885	1.475	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.49103	-0.8974	9	0.30854	T	0.27	-23.0494	15.9029	0.79397	0.0:0.7438:0.2562:0.0	.	43	Q16526	CRY1_HUMAN	A	43	.	ENSP00000008527:G43A	G	-	2	0	CRY1	106010742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.758000	0.68776	0.710000	0.31997	0.561000	0.74099	GGC		PASS	0.577	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		6	15	6	15	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111748470	111748470	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:111748470C>T	ENST00000261726.6	+	15	2038	c.1884C>T	c.(1882-1884)atC>atT	p.I628I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	628					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.I628I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCAGGACCATCCAAGTGCGGC	0.647																																						uc001tsa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(1882-1884)ATC>ATT		cut-like 2							28.0	31.0	30.0					12																	111748470		2069	4199	6268	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748470C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1884C>T	12.37:g.111748470C>T							p.I628I	NM_015267	NP_056082	O14529	CUX2_HUMAN			15	2037	+			628			CUT 1.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1884C>T	CCDS41837.1																																																																																				PASS	0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		22	35	22	35	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111926308	111926308	+	Missense_Mutation	SNP	C	C	A	rs374319477		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:111926308C>A	ENST00000377617.3	-	15	2853	c.2692G>T	c.(2692-2694)Gat>Tat	p.D898Y	AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000389153.4_Missense_Mutation_p.D633Y|ATXN2_ENST00000535949.1_Missense_Mutation_p.D609Y|ATXN2_ENST00000608853.1_Missense_Mutation_p.D738Y|ATXN2_ENST00000550104.1_Missense_Mutation_p.D898Y|ATXN2_ENST00000542287.2_Missense_Mutation_p.D633Y	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	898					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.D898Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TCTTCCTTATCGTCTTTCTCT	0.433																																						uc001tsj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2692-2694)GAT>TAT		ataxin 2							112.0	111.0	111.0					12																	111926308		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111926308C>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2692G>T	12.37:g.111926308C>A	ENSP00000366843:p.Asp898Tyr					ATXN2_uc001tsh.2_Missense_Mutation_p.D633Y|ATXN2_uc001tsi.2_Missense_Mutation_p.D609Y|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.D84Y	p.D898Y	NM_002973	NP_002964	Q99700	ATX2_HUMAN			15	2854	-			898					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.2692G>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409023	0.83340	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467	T;T	0.70869	-0.43;-0.52	5.55	5.55	0.83447	.	0.154834	0.56097	D	0.000021	T	0.76062	0.3935	L	0.29908	0.895	0.58432	D	0.999999	D;P;D;D	0.65815	0.995;0.91;0.993;0.978	P;P;P;P	0.60541	0.831;0.578;0.876;0.823	T	0.78450	-0.2199	10	0.72032	D	0.01	-14.0583	19.5087	0.95132	0.0:1.0:0.0:0.0	.	898;609;633;633	Q99700;Q24JQ7;F8VQP2;F8WB06	ATX2_HUMAN;.;.;.	Y	633;898;898;633;609;222	ENSP00000366843:D898Y;ENSP00000446576:D898Y	ENSP00000366843:D898Y	D	-	1	0	ATXN2	110410691	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	4.042000	0.57347	2.618000	0.88619	0.467000	0.42956	GAT		PASS	0.433	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		23	107	23	107	---	---	---	---
MAPKAPK5	8550	broad.mit.edu	37	12	112321495	112321495	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:112321495G>C	ENST00000551404.2	+	9	879	c.771G>C	c.(769-771)aaG>aaC	p.K257N	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.K257N			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.K257N(2)		endometrium(1)|lung(11)|ovary(1)	13						TGCGAAGAAAGATCATGACAG	0.498																																						uc001tta.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)	3						c.(769-771)AAG>AAC		MAP kinase-activated protein kinase 5 isoform 2							166.0	158.0	160.0					12																	112321495		1982	4155	6137	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112321495G>C	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.771G>C	12.37:g.112321495G>C	ENSP00000449381:p.Lys257Asn					MAPKAPK5_uc001tsz.2_Missense_Mutation_p.K257N|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.K190N	p.K257N	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN			9	1030	+			257			Protein kinase.		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.771G>C	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292961	0.60086	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000553053;ENST00000551404	T;T	0.66460	-0.21;-0.21	5.32	3.5	0.40072	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	T	0.67487	0.2898	N	0.17379	0.485	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.76575	0.988;0.954;0.924	T	0.69529	-0.5121	10	0.66056	D	0.02	-19.0173	11.6747	0.51424	0.1441:0.0:0.8559:0.0	.	251;257;257	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	N	257;257;257;24;257	ENSP00000449667:K257N;ENSP00000449381:K257N	ENSP00000202788:K257N	K	+	3	2	MAPKAPK5	110805878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.282000	0.58971	0.634000	0.30469	0.557000	0.71058	AAG		PASS	0.498	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		61	213	61	213	---	---	---	---
MAPKAPK5	8550	broad.mit.edu	37	12	112321523	112321523	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:112321523G>A	ENST00000551404.2	+	9	907	c.799G>A	c.(799-801)Gag>Aag	p.E267K	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.E267K			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.E267K(2)		endometrium(1)|lung(11)|ovary(1)	13						TGAGTTCCCAGAGGAAGAGTG	0.527																																						uc001tta.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)	3						c.(799-801)GAG>AAG		MAP kinase-activated protein kinase 5 isoform 2							121.0	117.0	118.0					12																	112321523		1985	4166	6151	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112321523G>A	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.799G>A	12.37:g.112321523G>A	ENSP00000449381:p.Glu267Lys					MAPKAPK5_uc001tsz.2_Missense_Mutation_p.E267K|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.E200K	p.E267K	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN			9	1058	+			267			Protein kinase.		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.799G>A	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753898	0.89843	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000553053;ENST00000551404	T;T	0.65732	-0.17;-0.17	5.32	5.32	0.75619	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	T	0.58552	0.2130	L	0.28115	0.83	0.80722	D	1	B;P;P	0.47841	0.153;0.901;0.879	B;P;B	0.46208	0.18;0.507;0.373	T	0.63435	-0.6638	10	0.59425	D	0.04	-18.8525	18.9881	0.92780	0.0:0.0:1.0:0.0	.	261;267;267	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	K	267;267;267;34;267	ENSP00000449667:E267K;ENSP00000449381:E267K	ENSP00000202788:E267K	E	+	1	0	MAPKAPK5	110805906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.484000	0.83849	0.557000	0.71058	GAG		PASS	0.527	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		44	155	44	155	---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113384716	113384716	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:113384716T>A	ENST00000228928.7	+	4	984	c.805T>A	c.(805-807)Tgg>Agg	p.W269R	OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	269	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.W269R(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GTGTGTTTTCTGGACTGTCAA	0.562																																						uc001tug.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(805-807)TGG>AGG		2'-5'oligoadenylate synthetase 3							93.0	94.0	94.0					12																	113384716		2013	4192	6205	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113384716T>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.805T>A	12.37:g.113384716T>A	ENSP00000228928:p.Trp269Arg						p.W269R	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			4	892	+			269			OAS domain 1.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.805T>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.772960	0.69992	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.79653	-1.29	4.23	4.23	0.50019	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	D	0.90072	0.6899	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91139	0.4944	9	0.87932	D	0	.	9.8662	0.41145	0.0:0.0:0.0:1.0	.	269	Q9Y6K5	OAS3_HUMAN	R	269	ENSP00000228928:W269R	ENSP00000228928:W269R	W	+	1	0	OAS3	111869099	1.000000	0.71417	0.984000	0.44739	0.952000	0.60782	3.903000	0.56318	1.885000	0.54596	0.533000	0.62120	TGG		PASS	0.562	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			25	34	25	34	---	---	---	---
PLBD2	196463	broad.mit.edu	37	12	113812701	113812701	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:113812701C>T	ENST00000280800.3	+	5	779	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	PLBD2_ENST00000547163.1_3'UTR|PLBD2_ENST00000545182.2_Silent_p.L250L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	250					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.L250L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTCATCAAGCTGCTCCCTGG	0.577																																						uc001tve.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(748-750)CTG>TTG		phospholipase B domain containing 2 isoform 1							108.0	93.0	98.0					12																	113812701		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113812701C>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.748C>T	12.37:g.113812701C>T						PLBD2_uc001tvf.2_Silent_p.L250L	p.L250L	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			5	783	+			250					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.748C>T	CCDS9168.1																																																																																				PASS	0.577	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		19	130	19	130	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122832004	122832004	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:122832004G>A	ENST00000540338.1	-	9	1465	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	CLIP1_ENST00000358808.2_Missense_Mutation_p.A464V|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000545889.1_Missense_Mutation_p.A165V|CLIP1_ENST00000537178.1_Intron|CLIP1_ENST00000302528.7_Missense_Mutation_p.A464V			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	475					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A464V(2)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTTAATGCGGGCATGCTCCAG	0.478																																						uc001ucg.1																			2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(2)|breast(1)	3						c.(1423-1425)GCC>GTC		restin isoform a							148.0	129.0	136.0					12																	122832004		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122832004G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1424C>T	12.37:g.122832004G>A	ENSP00000439093:p.Ala475Val					CLIP1_uc001uch.1_Missense_Mutation_p.A464V|CLIP1_uc001uci.1_Intron|CLIP1_uc001ucj.1_Missense_Mutation_p.A165V|CLIP1_uc009zxo.1_Intron	p.A475V	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	9	1530	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		475			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1424C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746732	0.89663	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000540338;ENST00000540304	T;T;T;T;T	0.64260	2.59;0.52;0.52;0.53;-0.09	5.41	5.41	0.78517	.	0.130690	0.50627	D	0.000116	T	0.71213	0.3313	L	0.57536	1.79	0.47183	D	0.999344	P;P	0.51351	0.944;0.846	P;P	0.52109	0.69;0.493	T	0.72966	-0.4131	10	0.59425	D	0.04	-10.1585	19.5668	0.95397	0.0:0.0:1.0:0.0	.	464;475	P30622-1;P30622	.;CLIP1_HUMAN	V	165;464;464;309;475;398	ENSP00000438743:A165V;ENSP00000303585:A464V;ENSP00000351665:A464V;ENSP00000439093:A475V;ENSP00000437786:A398V	ENSP00000303585:A464V	A	-	2	0	CLIP1	121397957	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.672000	0.74477	2.700000	0.92200	0.650000	0.86243	GCC		PASS	0.478	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		5	305	5	305	---	---	---	---
RILPL1	353116	broad.mit.edu	37	12	123970353	123970353	+	Splice_Site	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:123970353C>G	ENST00000376874.4	-	5	1037		c.e5-1		RILPL1_ENST00000544468.1_5'Flank|RILPL1_ENST00000340724.6_Splice_Site	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1						epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)		p.?(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CCGGCTCCGTCTGGAGGAGGC	0.627																																						uc001ufe.2																			1	Unknown(1)		lung(1)		0						c.e5-1		Rab interacting lysosomal protein-like 1							24.0	26.0	25.0					12																	123970353		1983	4157	6140	SO:0001630	splice_region_variant	353116				neuroprotection	cytosol		g.chr12:123970353C>G	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.802-1G>C	12.37:g.123970353C>G						RILPL1_uc001ufd.2_Splice_Site_p.T117_splice|RILPL1_uc010tas.1_Splice_Site_p.T268_splice	p.T268_splice	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	5	1038	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q66K36|Q8N1M0	Splice_Site	SNP	ENST00000376874.4	37	c.802_splice	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390232	0.62066	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4327	0.87544	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RILPL1	122536306	0.967000	0.33354	0.754000	0.31244	0.764000	0.43329	2.149000	0.42244	2.206000	0.71126	0.491000	0.48974	.		PASS	0.627	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314	Intron	8	25	8	25	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23913541	23913541	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:23913541C>G	ENST00000382292.3	-	9	4747	c.4474G>C	c.(4474-4476)Gaa>Caa	p.E1492Q	SACS_ENST00000382298.3_Missense_Mutation_p.E1492Q|SACS_ENST00000402364.1_Missense_Mutation_p.E742Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1492					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E1492Q(1)|p.E1345Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACTGCATTCTGTTGCATTT	0.378																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4474-4476)GAA>CAA		sacsin							66.0	63.0	64.0					13																	23913541		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913541C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4474G>C	13.37:g.23913541C>G	ENSP00000371729:p.Glu1492Gln					SACS_uc001uoo.2_Missense_Mutation_p.E1345Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.E1492Q	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5063	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1492					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4474G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672118	0.47781	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90004	-2.6;-2.6;-2.6	5.96	5.96	0.96718	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.85784	0.5777	L	0.42686	1.345	0.58432	D	0.999994	P	0.40578	0.722	B	0.34779	0.189	D	0.85639	0.1275	10	0.48119	T	0.1	.	20.4084	0.99013	0.0:1.0:0.0:0.0	.	1492	Q9NZJ4	SACS_HUMAN	Q	1492;742;1492	ENSP00000371729:E1492Q;ENSP00000385844:E742Q;ENSP00000371735:E1492Q	ENSP00000371729:E1492Q	E	-	1	0	SACS	22811541	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	5.710000	0.68392	2.833000	0.97629	0.650000	0.86243	GAA		PASS	0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		64	47	64	47	---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46641480	46641480	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:46641480C>T	ENST00000181383.4	-	7	680	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	222					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.V222M(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACATTAACCACTGGCATAACA	0.363																																						uc001vaw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(664-666)GTG>ATG		plasma carboxypeptidase B2 isoform a							100.0	98.0	98.0					13																	46641480		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46641480C>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.664G>A	13.37:g.46641480C>T	ENSP00000181383:p.Val222Met					uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Intron	p.V222M	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	7	731	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	222					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.664G>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066813	0.36470	.	.	ENSG00000080618	ENST00000181383	T	0.11169	2.8	5.87	2.15	0.27550	Peptidase M14, carboxypeptidase A (2);	0.285440	0.38605	N	0.001638	T	0.36193	0.0958	M	0.89840	3.065	0.58432	D	0.999992	D	0.65815	0.995	D	0.69824	0.966	T	0.23547	-1.0185	10	0.87932	D	0	.	11.3313	0.49477	0.0:0.5514:0.3826:0.066	.	222	Q96IY4	CBPB2_HUMAN	M	222	ENSP00000181383:V222M	ENSP00000181383:V222M	V	-	1	0	CPB2	45539481	0.487000	0.25988	0.008000	0.14137	0.242000	0.25591	1.075000	0.30716	0.083000	0.17047	-0.211000	0.12701	GTG		PASS	0.363	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		5	33	5	33	---	---	---	---
RCBTB1	55213	broad.mit.edu	37	13	50115024	50115024	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:50115024T>G	ENST00000378302.2	-	12	1703	c.1443A>C	c.(1441-1443)agA>agC	p.R481S	RCBTB1_ENST00000471984.1_5'Flank|RCBTB1_ENST00000258646.3_Missense_Mutation_p.R481S	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	481	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R481S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|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;4.7e-09)		CTGCATCATATCTGACTGCAG	0.433																																						uc001vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1441-1443)AGA>AGC		regulator of chromosome condensation (RCC1) and							130.0	114.0	119.0					13																	50115024		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50115024T>G	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1443A>C	13.37:g.50115024T>G	ENSP00000367552:p.Arg481Ser						p.R481S	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	12	1704	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	481			BTB 2.		Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.1443A>C	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213868	0.58452	.	.	ENSG00000136144	ENST00000258646;ENST00000378302	T;T	0.37584	1.19;1.19	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.40543	1.245	0.80722	D	1	B	0.25521	0.128	B	0.32465	0.146	T	0.10660	-1.0620	10	0.23891	T	0.37	-20.0133	12.723	0.57152	0.0:0.0:0.1371:0.8629	.	481	Q8NDN9	RCBT1_HUMAN	S	481	ENSP00000258646:R481S;ENSP00000367552:R481S	ENSP00000258646:R481S	R	-	3	2	RCBTB1	49013025	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.320000	0.51991	2.234000	0.73211	0.533000	0.62120	AGA		PASS	0.433	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		24	63	24	63	---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52682506	52682506	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:52682506G>A	ENST00000355568.4	-	8	641	c.502C>T	c.(502-504)Cct>Tct	p.P168S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P225S(1)|p.P168S(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGTAGTAAGGTGTTCCAATA	0.333																																						uc001vge.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(502-504)CCT>TCT		NIMA-related kinase 5							157.0	150.0	152.0					13																	52682506		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52682506G>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.502C>T	13.37:g.52682506G>A	ENSP00000347767:p.Pro168Ser					NEK5_uc001vgf.2_Missense_Mutation_p.P168S	p.P168S	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	8	642	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	168			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.502C>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864583	0.91511	.	.	ENSG00000197168	ENST00000355568	T	0.29142	1.58	5.39	5.39	0.77823	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	0.64402	D	0.000003	T	0.66297	0.2775	M	0.92026	3.265	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.74777	-0.3550	10	0.87932	D	0	.	19.1656	0.93555	0.0:0.0:1.0:0.0	.	168	Q6P3R8	NEK5_HUMAN	S	168	ENSP00000347767:P168S	ENSP00000347767:P168S	P	-	1	0	NEK5	51580507	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.046000	0.93817	2.532000	0.85374	0.557000	0.71058	CCT		PASS	0.333	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		41	54	41	54	---	---	---	---
PCCA	5095	broad.mit.edu	37	13	100955223	100955223	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:100955223C>G	ENST00000376285.1	+	14	1293	c.1255C>G	c.(1255-1257)Cag>Gag	p.Q419E	PCCA_ENST00000376286.4_Missense_Mutation_p.Q393E|PCCA_ENST00000376279.3_Missense_Mutation_p.Q419E	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	419	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.Q419E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GAGATTGTCTCAGTACCAAGA	0.373																																						uc001voo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1255-1257)CAG>GAG		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						171.0	159.0	163.0					13																	100955223		2203	4300	6503	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100955223C>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1255C>G	13.37:g.100955223C>G	ENSP00000365462:p.Gln419Glu					PCCA_uc010aga.2_Missense_Mutation_p.Q393E|PCCA_uc010tiz.1_Missense_Mutation_p.Q419E|PCCA_uc001vop.2_RNA	p.Q419E	NM_000282	NP_000273	P05165	PCCA_HUMAN			14	1293	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		419			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.1255C>G	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384649	0.61845	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	T;T;T	0.80566	-1.39;-1.39;-1.39	5.49	5.49	0.81192	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	N	0.04787	-0.16	0.58432	D	0.999999	P;P;P	0.39535	0.677;0.626;0.677	B;B;B	0.33620	0.11;0.104;0.167	T	0.72381	-0.4311	10	0.62326	D	0.03	.	19.7254	0.96162	0.0:1.0:0.0:0.0	.	419;393;419	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	E	393;419;419	ENSP00000365463:Q393E;ENSP00000365456:Q419E;ENSP00000365462:Q419E	ENSP00000365456:Q419E	Q	+	1	0	PCCA	99753224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.420000	0.66441	2.732000	0.93576	0.650000	0.86243	CAG		PASS	0.373	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			38	67	38	67	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101763018	101763018	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:101763018G>C	ENST00000251127.6	-	20	2397	c.2316C>G	c.(2314-2316)aaC>aaG	p.N772K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	772					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.N772K(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTCTGGCTGTTTGATCCAT	0.373																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2314-2316)AAC>AAG		voltage gated channel like 1							152.0	139.0	143.0					13																	101763018		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101763018G>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2316C>G	13.37:g.101763018G>C	ENSP00000251127:p.Asn772Lys						p.N772K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			20	2505	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		772			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2316C>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	5.005	0.186552	0.09495	.	.	ENSG00000102452	ENST00000251127	D	0.97430	-4.38	5.22	4.38	0.52667	.	0.048272	0.85682	D	0.000000	D	0.91246	0.7241	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.12837	0.008	D	0.86396	0.1739	10	0.06099	T	0.92	.	14.0887	0.64975	0.0727:0.0:0.9273:0.0	.	772	Q8IZF0	NALCN_HUMAN	K	772	ENSP00000251127:N772K	ENSP00000251127:N772K	N	-	3	2	NALCN	100561019	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.368000	0.59505	1.341000	0.45600	0.555000	0.69702	AAC		PASS	0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		29	56	29	56	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101881796	101881796	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:101881796A>G	ENST00000251127.6	-	13	1655	c.1574T>C	c.(1573-1575)tTg>tCg	p.L525S	NALCN_ENST00000376196.3_Missense_Mutation_p.L525S|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	525					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.L525S(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAACATCTGCAAACTAATTGC	0.353																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1573-1575)TTG>TCG		voltage gated channel like 1							106.0	109.0	108.0					13																	101881796		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101881796A>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1574T>C	13.37:g.101881796A>G	ENSP00000251127:p.Leu525Ser					NALCN_uc001voy.2_Missense_Mutation_p.L240S|NALCN_uc001voz.2_Missense_Mutation_p.L525S|NALCN_uc001vpa.2_Missense_Mutation_p.L525S	p.L525S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			13	1763	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		525			Helical; Name=S5 of repeat II; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1574T>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325762	0.81580	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98649	-5.05;-5.05	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99118	0.9696	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.976;0.984	D	0.99589	1.0975	10	0.87932	D	0	.	15.204	0.73162	1.0:0.0:0.0:0.0	.	525;525;525	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	S	525	ENSP00000251127:L525S;ENSP00000365367:L525S	ENSP00000251127:L525S	L	-	2	0	NALCN	100679797	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.760000	0.91671	2.051000	0.60960	0.528000	0.53228	TTG		PASS	0.353	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		11	96	11	96	---	---	---	---
FGF14	2259	broad.mit.edu	37	13	102527585	102527585	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:102527585C>A	ENST00000376143.4	-	2	254	c.255G>T	c.(253-255)atG>atT	p.M85I	FGF14_ENST00000468052.1_5'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.M90I	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	85					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.M85I(1)|p.M90I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATCGGGGTGCATTTGCAAGT	0.458																																						uc001vpe.2																			2	Substitution - Missense(2)	p.G85G(1)	lung(2)	ovary(2)|lung(1)|large_intestine(1)	4						c.(253-255)ATG>ATT		fibroblast growth factor 14 isoform 1A							194.0	167.0	176.0					13																	102527585		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102527585C>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.255G>T	13.37:g.102527585C>A	ENSP00000365313:p.Met85Ile					FGF14_uc001vpf.2_Missense_Mutation_p.M90I	p.M85I	NM_004115	NP_004106	Q92915	FGF14_HUMAN			2	255	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		85					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.255G>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148599	0.21288	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.76578	-1.03;-1.03	5.38	5.38	0.77491	.	0.117022	0.85682	D	0.000000	T	0.60586	0.2280	N	0.10837	0.055	0.80722	D	1	B;B	0.15141	0.0;0.012	B;B	0.20767	0.007;0.031	T	0.59059	-0.7525	10	0.02654	T	1	.	19.4972	0.95079	0.0:1.0:0.0:0.0	.	90;85	Q92915-2;Q92915	.;FGF14_HUMAN	I	90;85	ENSP00000365301:M90I;ENSP00000365313:M85I	ENSP00000365301:M90I	M	-	3	0	FGF14	101325586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.668000	0.90789	0.563000	0.77884	ATG		PASS	0.458	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			15	44	15	44	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110839513	110839513	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:110839513G>T	ENST00000375820.4	-	25	1821	c.1700C>A	c.(1699-1701)cCg>cAg	p.P567Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	567	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P567Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGGAAGACCCGGATGGCCATC	0.517																																						uc001vqw.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1699-1701)CCG>CAG		alpha 1 type IV collagen preproprotein							93.0	102.0	99.0					13																	110839513		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110839513G>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1700C>A	13.37:g.110839513G>T	ENSP00000364979:p.Pro567Gln					COL4A1_uc010agl.2_Intron	p.P567Q	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		25	1822	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	567			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1700C>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039039	0.55003	.	.	ENSG00000187498	ENST00000375820	D	0.96716	-4.1	4.66	4.66	0.58398	.	0.061399	0.64402	D	0.000003	D	0.95567	0.8559	L	0.48877	1.53	0.80722	D	1	D	0.59357	0.985	P	0.54210	0.745	D	0.93973	0.7251	10	0.28530	T	0.3	.	12.9761	0.58538	0.0:0.0:0.8384:0.1616	.	567	P02462	CO4A1_HUMAN	Q	567	ENSP00000364979:P567Q	ENSP00000364979:P567Q	P	-	2	0	COL4A1	109637514	1.000000	0.71417	0.664000	0.29753	0.922000	0.55478	6.998000	0.76277	2.308000	0.77769	0.563000	0.77884	CCG		PASS	0.517	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			33	103	33	103	---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114541079	114541079	+	Missense_Mutation	SNP	G	G	C	rs201561637	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr13:114541079G>C	ENST00000327773.6	-	6	698	c.552C>G	c.(550-552)agC>agG	p.S184R	GAS6_ENST00000355761.4_Missense_Mutation_p.S130R|GAS6_ENST00000357389.3_Missense_Mutation_p.S184R|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	184	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)	p.S184R(1)		central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCTCGAAGCCGCTGTGGCAGG	0.587																																						uc001vud.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)	4						c.(550-552)AGC>AGG		growth arrest-specific 6 isoform 1 precursor							99.0	93.0	95.0					13																	114541079		2203	4296	6499	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114541079G>C		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.552C>G	13.37:g.114541079G>C	ENSP00000331831:p.Ser184Arg					GAS6_uc001vuf.2_5'Flank	p.S184R	NM_000820	NP_000811	Q14393	GAS6_HUMAN			6	705	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	184			EGF-like 2; calcium-binding (Potential).		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.552C>G	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	g	18.77	3.693954	0.68386	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.86097	-2.07;-2.07;-2.07	4.99	-1.67	0.08238	.	.	.	.	.	T	0.79335	0.4428	L	0.41632	1.29	0.80722	D	1	D	0.58620	0.983	P	0.50490	0.642	T	0.72640	-0.4232	9	0.23891	T	0.37	-30.8742	6.8955	0.24253	0.545:0.1228:0.3322:0.0	.	184	Q14393-2	.	R	184;130;184	ENSP00000349962:S184R;ENSP00000348003:S130R;ENSP00000331831:S184R	ENSP00000331831:S184R	S	-	3	2	GAS6	113572864	0.000000	0.05858	0.996000	0.52242	0.747000	0.42532	-1.005000	0.03674	-0.231000	0.09825	-0.348000	0.07805	AGC		PASS	0.587	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		17	30	17	30	---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21360108	21360108	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:21360108G>A	ENST00000304639.3	+	2	321	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	88					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)	p.R88H(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CAAAGTATACGCTGCCCTCAT	0.398																																						uc001vyj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)CGC>CAC		ribonuclease, RNase A family, 3 (eosinophil	Pranlukast(DB01411)						113.0	116.0	115.0					14																	21360108		2190	4300	6490	SO:0001583	missense	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360108G>A	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.263G>A	14.37:g.21360108G>A	ENSP00000302324:p.Arg88His						p.R88H	NM_002935	NP_002926	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	317	+	all_cancers(95;0.00453)		88					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	c.263G>A	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	g	8.610	0.888884	0.17540	.	.	ENSG00000169397	ENST00000304639	T	0.73363	-0.74	2.38	0.313	0.15842	Ribonuclease A, domain (4);	1.859380	0.04028	U	0.300978	T	0.61578	0.2358	L	0.34521	1.04	0.09310	N	1	D	0.56521	0.976	B	0.40066	0.318	T	0.53718	-0.8399	10	0.46703	T	0.11	.	4.8188	0.13379	0.4314:0.357:0.2116:0.0	.	88	P12724	ECP_HUMAN	H	88	ENSP00000302324:R88H	ENSP00000302324:R88H	R	+	2	0	RNASE3	20429948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.741000	0.00798	-0.198000	0.10333	-0.256000	0.11100	CGC		PASS	0.398	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		35	150	35	150	---	---	---	---
HNRNPC	3183	broad.mit.edu	37	14	21679612	21679612	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:21679612C>A	ENST00000320084.7	-	7	1029	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	HNRNPC_ENST00000553753.1_Missense_Mutation_p.G251W|HNRNPC_ENST00000555883.1_Missense_Mutation_p.G208W|HNRNPC_ENST00000430246.2_Missense_Mutation_p.G251W|HNRNPC_ENST00000554455.1_Missense_Mutation_p.G264W|HNRNPC_ENST00000557201.1_Missense_Mutation_p.G264W|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000420743.2_Missense_Mutation_p.G264W|HNRNPC_ENST00000556897.1_Missense_Mutation_p.G251W|HNRNPC_ENST00000336053.6_Missense_Mutation_p.G251W|HNRNPC_ENST00000555309.1_Missense_Mutation_p.G263W|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000556628.1_Missense_Mutation_p.G184W|HNRNPC_ENST00000554969.1_Missense_Mutation_p.G251W|HNRNPC_ENST00000553300.1_Missense_Mutation_p.G251W|HNRNPC_ENST00000449098.1_Missense_Mutation_p.G251W|HNRNPC_ENST00000555914.1_Missense_Mutation_p.G250W	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	264	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.G264W(1)		breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		AGTAGGTCCCCCTCCTCAGCA	0.522																																					NSCLC(108;607 2244 12726 38757)	uc001vzy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(790-792)GGG>TGG		heterogeneous nuclear ribonucleoprotein C							70.0	78.0	75.0					14																	21679612		2202	4300	6502	SO:0001583	missense	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21679612C>A		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.790G>T	14.37:g.21679612C>A	ENSP00000319690:p.Gly264Trp					HNRNPC_uc001vzw.2_Missense_Mutation_p.G251W|HNRNPC_uc001wad.2_Missense_Mutation_p.G184W|HNRNPC_uc001vzx.2_RNA|HNRNPC_uc001vzz.2_Missense_Mutation_p.G251W|HNRNPC_uc001waa.2_Missense_Mutation_p.G264W|HNRNPC_uc010ail.2_Missense_Mutation_p.G264W|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.G250W|HNRNPC_uc001wac.2_Missense_Mutation_p.G208W|HNRNPC_uc010tlr.1_Missense_Mutation_p.G129W|HNRNPC_uc001waf.2_Missense_Mutation_p.G251W|HNRNPC_uc001wae.2_Missense_Mutation_p.G251W	p.G264W	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	8	1034	-	all_cancers(95;0.00176)		264			Asp/Glu-rich (acidic).		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	37	c.790G>T	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151094	0.57151	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000554455;ENST00000430246;ENST00000400042;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16743	2.67;2.9;2.72;2.72;2.9;2.72;2.67;2.66;2.86;2.32;2.51;2.9;2.72;2.72;2.9;2.55;2.33;2.76	5.88	4.97	0.65823	.	0.174393	0.35124	U	0.003425	T	0.36963	0.0986	L	0.50333	1.59	0.48901	D	0.999724	B;B;D;D;D;D;D	0.89917	0.18;0.137;1.0;1.0;1.0;1.0;1.0	B;B;D;D;D;D;D	0.97110	0.057;0.022;0.999;1.0;0.999;0.997;0.999	T	0.13872	-1.0493	10	0.87932	D	0	.	15.1502	0.72692	0.1426:0.8574:0.0:0.0	.	159;251;184;208;250;264;251	B4DQQ2;B4DY08;P07910-3;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;.;.;HNRPC_HUMAN;.	W	251;264;251;251;264;251;60;251;250;263;184;208;264;251;159;251;264;172;264;148;251	ENSP00000338095:G251W;ENSP00000319690:G264W;ENSP00000404559:G251W;ENSP00000450725:G251W;ENSP00000451291:G264W;ENSP00000442816:G251W;ENSP00000450548:G251W;ENSP00000451708:G250W;ENSP00000450790:G263W;ENSP00000451652:G184W;ENSP00000450629:G208W;ENSP00000452276:G264W;ENSP00000450544:G251W;ENSP00000451176:G251W;ENSP00000404848:G264W;ENSP00000450601:G172W;ENSP00000452545:G148W;ENSP00000452021:G251W	ENSP00000216296:G159W	G	-	1	0	HNRNPC	20749452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.518000	0.60510	1.445000	0.47624	0.655000	0.94253	GGG		PASS	0.522	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			36	77	36	77	---	---	---	---
REC8	9985	broad.mit.edu	37	14	24642575	24642575	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:24642575G>T	ENST00000311457.3	+	6	1016	c.417G>T	c.(415-417)atG>atT	p.M139I	REC8_ENST00000559919.1_Missense_Mutation_p.M139I			O95072	REC8_HUMAN	REC8 meiotic recombination protein	139					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)		p.M139I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TTTTTGGGATGATGTCTGTGG	0.532																																					NSCLC(139;1764 2537 12868 49041)	uc001wmr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)ATG>ATT		REC8 homolog							203.0	210.0	208.0					14																	24642575		1990	4158	6148	SO:0001583	missense	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642575G>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.417G>T	14.37:g.24642575G>T	ENSP00000308699:p.Met139Ile					REC8_uc001wms.2_Missense_Mutation_p.M139I	p.M139I	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	844	+			139					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.417G>T	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638503	0.29157	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.20463	2.07	5.53	4.63	0.57726	.	0.432558	0.26003	N	0.026939	T	0.18841	0.0452	L	0.40543	1.245	0.29360	N	0.864738	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.06991	-1.0796	10	0.37606	T	0.19	-7.5971	13.2264	0.59916	0.0:0.176:0.824:0.0	.	139;139	O95072-2;O95072	.;REC8_HUMAN	I	139	ENSP00000308699:M139I	ENSP00000308699:M139I	M	+	3	0	REC8	23712415	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.343000	0.33930	1.289000	0.44618	0.561000	0.74099	ATG		PASS	0.532	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		175	238	175	238	---	---	---	---
CFL2	1073	broad.mit.edu	37	14	35182136	35182136	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:35182136G>A	ENST00000341223.3	-	4	587	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	CFL2_ENST00000556161.1_Missense_Mutation_p.R129C|CFL2_ENST00000555765.1_Missense_Mutation_p.R129C|CFL2_ENST00000298159.6_Missense_Mutation_p.R146C	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	146	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)		p.R146C(1)		breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		AGTGTCGAACGGTCCTTAATA	0.328																																						uc001wsg.3																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(436-438)CGT>TGT		cofilin 2							116.0	113.0	114.0					14																	35182136		2203	4300	6503	SO:0001583	missense	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182136G>A	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.436C>T	14.37:g.35182136G>A	ENSP00000340635:p.Arg146Cys					CFL2_uc010tpn.1_Missense_Mutation_p.R129C|CFL2_uc001wsh.3_Missense_Mutation_p.R146C|CFL2_uc001wsi.3_RNA|CFL2_uc001wsj.3_RNA	p.R146C	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	4	577	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		146			ADF-H.		G3V5P4	Missense_Mutation	SNP	ENST00000341223.3	37	c.436C>T	CCDS9650.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903794	0.33628	.	.	ENSG00000165410	ENST00000341223;ENST00000298159;ENST00000555765;ENST00000556161	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	6.02	4.22	0.49857	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	M	0.72894	2.215	0.80722	D	1	B	0.15141	0.012	B	0.25405	0.06	T	0.77550	-0.2546	10	0.44086	T	0.13	0.2694	12.6748	0.56887	0.1318:0.0:0.8682:0.0	.	146	Q9Y281	COF2_HUMAN	C	146;146;129;129	ENSP00000340635:R146C;ENSP00000298159:R146C;ENSP00000452451:R129C;ENSP00000452188:R129C	ENSP00000298159:R146C	R	-	1	0	CFL2	34251887	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	4.745000	0.62125	0.902000	0.36520	-0.136000	0.14681	CGT		PASS	0.328	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638		30	92	30	92	---	---	---	---
PTGDR	5729	broad.mit.edu	37	14	52734567	52734567	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:52734567C>A	ENST00000306051.2	+	1	137	c.35C>A	c.(34-36)aCc>aAc	p.T12N	PTGDR_ENST00000553372.1_Missense_Mutation_p.T12N	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	12					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.T12N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CAGAACACCACCTCTGTGGAA	0.701																																						uc001wzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(34-36)ACC>AAC		prostaglandin D2 receptor	Nedocromil(DB00716)						22.0	24.0	23.0					14																	52734567		2203	4300	6503	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52734567C>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.35C>A	14.37:g.52734567C>A	ENSP00000303424:p.Thr12Asn						p.T12N	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	137	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		12			Extracellular (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.35C>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031239	0.54790	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.18502	2.21;2.47	4.75	4.75	0.60458	.	0.140449	0.33364	N	0.004985	T	0.14313	0.0346	L	0.38175	1.15	0.09310	N	1	P	0.38922	0.651	B	0.35240	0.198	T	0.16335	-1.0406	10	0.44086	T	0.13	-18.5953	13.9763	0.64275	0.0:1.0:0.0:0.0	.	12	Q13258	PD2R_HUMAN	N	12	ENSP00000303424:T12N;ENSP00000452408:T12N	ENSP00000303424:T12N	T	+	2	0	PTGDR	51804317	0.001000	0.12720	0.038000	0.18304	0.051000	0.14879	1.456000	0.35201	2.575000	0.86900	0.563000	0.77884	ACC		PASS	0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		9	5	9	5	---	---	---	---
CIPC	85457	broad.mit.edu	37	14	77580545	77580545	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:77580545G>C	ENST00000361786.2	+	4	1401	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		362					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E362Q(1)		endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GCTGTTTATAGAAGCCACCAA	0.493																																						uc001xtd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1084-1086)GAA>CAA		KIAA1737 protein							48.0	53.0	51.0					14																	77580545		2202	4299	6501	SO:0001583	missense	85457							g.chr14:77580545G>C																												ENST00000361786.2:c.1084G>C	14.37:g.77580545G>C	ENSP00000355319:p.Glu362Gln					KIAA1737_uc001xtc.1_Missense_Mutation_p.E264Q	p.E362Q	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	1263	+			362					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.1084G>C	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462810	0.63513	.	.	ENSG00000198894	ENST00000361786	T	0.33865	1.39	5.88	5.88	0.94601	.	0.265447	0.43919	N	0.000518	T	0.51941	0.1704	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.43491	-0.9388	10	0.42905	T	0.14	-25.4477	12.5101	0.56002	0.0755:0.0:0.9245:0.0	.	362;264	Q9C0C6;B3KU75	K1737_HUMAN;.	Q	362	ENSP00000355319:E362Q	ENSP00000355319:E362Q	E	+	1	0	KIAA1737	76650298	1.000000	0.71417	0.987000	0.45799	0.938000	0.57974	5.124000	0.64709	2.792000	0.96026	0.555000	0.69702	GAA		PASS	0.493	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			3	78	3	78	---	---	---	---
TTC8	123016	broad.mit.edu	37	14	89337998	89337998	+	Silent	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:89337998T>C	ENST00000345383.5	+	11	1209	c.1125T>C	c.(1123-1125)cgT>cgC	p.R375R	TTC8_ENST00000358622.5_Silent_p.R187R|TTC8_ENST00000338104.6_Silent_p.R401R|TTC8_ENST00000380656.2_Silent_p.R385R|TTC8_ENST00000354441.6_Silent_p.R120R|TTC8_ENST00000346301.4_Silent_p.R345R|TTC8_ENST00000536576.1_Silent_p.R146R	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	411					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R385R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CATTTGAACGTGCCCTTTCTT	0.433																																						uc010ath.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1201-1203)CGT>CGC		tetratricopeptide repeat domain 8 isoform B							141.0	129.0	133.0					14																	89337998		2203	4300	6503	SO:0001819	synonymous_variant	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89337998T>C	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1125T>C	14.37:g.89337998T>C						TTC8_uc001xxl.2_Silent_p.R146R|TTC8_uc010ati.2_Silent_p.R187R|TTC8_uc001xxm.2_Silent_p.R345R|TTC8_uc010atj.2_Silent_p.R120R|TTC8_uc001xxi.2_Silent_p.R385R|TTC8_uc001xxj.2_Silent_p.R375R|TTC8_uc001xxk.2_Silent_p.R345R	p.R401R	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			12	1337	+			411			TPR 6.		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Silent	SNP	ENST00000345383.5	37	c.1203T>C	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.43|10.43	1.349108|1.349108	0.24426|0.24426	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000557580|ENST00000554686	.|.	.|.	.|.	5.73|5.73	1.71|1.71	0.24356|0.24356	.|.	.|.	.|.	.|.	.|.	T|T	0.42040|0.42040	0.1185|0.1185	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23904|0.23904	-1.0175|-1.0175	4|4	.|.	.|.	.|.	-12.0124|-12.0124	0.6868|0.6868	0.00884|0.00884	0.2476:0.2607:0.1117:0.38|0.2476:0.2607:0.1117:0.38	.|.	.|.	.|.	.|.	R|A	174|335	.|.	.|.	C|V	+|+	1|2	0|0	TTC8|TTC8	88407751|88407751	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.015000|0.015000	0.13355|0.13355	0.036000|0.036000	0.15547|0.15547	0.454000|0.454000	0.30748|0.30748	TGC|GTG		PASS	0.433	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		6	189	6	189	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94088624	94088624	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:94088624C>A	ENST00000393151.2	+	30	5045	c.5045C>A	c.(5044-5046)gCt>gAt	p.A1682D	UNC79_ENST00000553484.1_Missense_Mutation_p.A1704D|UNC79_ENST00000555664.1_Missense_Mutation_p.A1682D|UNC79_ENST00000256339.4_Missense_Mutation_p.A1505D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1682					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1505D(1)|p.A1704D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGAGCACAGCTCCGCTTGTA	0.537																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4579-4581)GCT>GAT		hypothetical protein LOC57578							78.0	82.0	81.0					14																	94088624		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088624C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5045C>A	14.37:g.94088624C>A	ENSP00000376858:p.Ala1682Asp					KIAA1409_uc001ybs.1_Missense_Mutation_p.A1505D	p.A1527D	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4663	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1682					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4580C>A		.	.	.	.	.	.	.	.	.	.	C	7.706	0.694206	0.15039	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.3	3.42	0.39159	.	0.504299	0.23090	N	0.052052	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.22941	-1.0202	10	0.72032	D	0.01	-1.9468	9.2712	0.37673	0.0:0.6488:0.2782:0.073	.	1704	C9JQL1	.	D	1505;1682;1704;1682;1704	ENSP00000256339:A1505D;ENSP00000450868:A1682D;ENSP00000451360:A1704D;ENSP00000376858:A1682D	ENSP00000256339:A1505D	A	+	2	0	KIAA1409	93158377	0.203000	0.23435	0.003000	0.11579	0.548000	0.35241	1.698000	0.37794	0.574000	0.29417	0.313000	0.20887	GCT		PASS	0.537	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		78	49	78	49	---	---	---	---
PPP4R4	57718	broad.mit.edu	37	14	94697620	94697620	+	Missense_Mutation	SNP	G	G	A	rs149895295		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:94697620G>A	ENST00000304338.3	+	5	638	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	162					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.E162K(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTCTGTTATAGAAGTATTGCC	0.358																																						uc001ycs.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(484-486)GAA>AAA		HEAT-like repeat-containing protein isoform 1							99.0	96.0	97.0					14																	94697620		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94697620G>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.484G>A	14.37:g.94697620G>A	ENSP00000305924:p.Glu162Lys						p.E162K	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			5	638	+			162					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.484G>A	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604065	0.66445	.	.	ENSG00000119698	ENST00000304338;ENST00000556470	T;T	0.33438	1.41;1.49	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.197817	0.53938	D	0.000049	T	0.38665	0.1049	M	0.63843	1.955	0.80722	D	1	B	0.28400	0.21	B	0.32980	0.156	T	0.09250	-1.0683	10	0.30854	T	0.27	-8.0129	20.1005	0.97872	0.0:0.0:1.0:0.0	.	162	Q6NUP7	PP4R4_HUMAN	K	162;81	ENSP00000305924:E162K;ENSP00000451556:E81K	ENSP00000305924:E162K	E	+	1	0	PPP4R4	93767373	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.702000	0.74628	2.758000	0.94735	0.467000	0.42956	GAA		PASS	0.358	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		81	64	81	64	---	---	---	---
EIF5	1983	broad.mit.edu	37	14	103802453	103802453	+	Splice_Site	SNP	G	G	T	rs368895056		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:103802453G>T	ENST00000216554.3	+	4	829	c.153G>T	c.(151-153)acG>acT	p.T51T	SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_Splice_Site_p.T51T|EIF5_ENST00000558506.1_Splice_Site_p.T51T|EIF5_ENST00000560200.1_Intron	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T51T(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GGCCTCCAACGTGTAAGTAAA	0.393																																						uc001ymq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(151-153)ACG>ACT		eukaryotic translation initiation factor 5							50.0	45.0	47.0					14																	103802453		2203	4300	6503	SO:0001630	splice_region_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103802453G>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.154+1G>T	14.37:g.103802453G>T						EIF5_uc001ymr.2_Silent_p.T51T|EIF5_uc001yms.2_Silent_p.T51T|EIF5_uc001ymt.2_Silent_p.T51T|EIF5_uc001ymu.2_Silent_p.T51T|SNORA28_uc001ymv.1_5'Flank	p.T51T	NM_001969	NP_001960	P55010	IF5_HUMAN	Epithelial(46;0.182)		4	675	+		Melanoma(154;0.155)	51					Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	c.153G>T	CCDS9980.1																																																																																				PASS	0.393	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969	Silent	29	20	29	20	---	---	---	---
IGHM	3507	broad.mit.edu	37	14	106321889	106321889	+	RNA	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:106321889G>T	ENST00000390559.2	-	0	344				AL122127.2_ENST00000581918.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.1_ENST00000581354.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|AL122127.4_ENST00000581720.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GTGGGACGAAGACGCTCACTT	0.667																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							29.0	32.0	31.0					14																	106321889		2105	4185	6290			8755							g.chr14:106321889G>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321889G>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron								3599		-								P20769	RNA	SNP	ENST00000390559.2	37	c.55507C>A																																																																																					PASS	0.667	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		28	17	28	17	---	---	---	---
IGHV3-15	28448	broad.mit.edu	37	14	106610747	106610747	+	RNA	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:106610747A>G	ENST00000390603.2	-	0	105									immunoglobulin heavy variable 3-15									p.F9S(1)									AGCAGCAAGGAAAATCCAGCT	0.463																																						uc010tyt.1																			1	Substitution - Missense(1)		lung(1)		0								Parts of antibodies, mostly variable regions.							118.0	112.0	114.0					14																	106610747		1890	4104	5994			8755							g.chr14:106610747A>G	X92216		14q32.33	2012-02-10			ENSG00000211943	ENSG00000211943		"""Immunoglobulins / IGH locus"""	5582	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152282		14.37:g.106610747A>G														1166		-									RNA	SNP	ENST00000390603.2	37	c.26187T>C																																																																																					PASS	0.463	IGHV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325670.1	NG_001019		26	110	26	110	---	---	---	---
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr14:106926482T>C	ENST00000434710.1	-	0	139									immunoglobulin heavy variable 3-43																		CCAGCTGCACTTCACACTGGA	0.527																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							176.0	114.0	134.0					14																	106926482		2031	4150	6181			8755							g.chr14:106926482T>C	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926482T>C						uc010tyu.1_Intron								235		-									RNA	SNP	ENST00000434710.1	37	c.10073A>G																																																																																					PASS	0.527	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		4	159	4	159	---	---	---	---
NIPA1	123606	broad.mit.edu	37	15	23049066	23049066	+	Silent	SNP	C	C	T	rs199718530		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:23049066C>T	ENST00000337435.4	-	5	777	c.753G>A	c.(751-753)gcG>gcA	p.A251A	NIPA1_ENST00000561183.1_Silent_p.A176A|NIPA1_ENST00000538684.1_Silent_p.A81A|NIPA1_ENST00000437912.2_Silent_p.A176A	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	251					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.A251A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		AGCACTCCAGCGCCTTGTTGA	0.597																																						uc001yvc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(751-753)GCG>GCA		non-imprinted in Prader-Willi/Angelman syndrome							123.0	88.0	100.0					15																	23049066		2203	4300	6503	SO:0001819	synonymous_variant	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23049066C>T	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.753G>A	15.37:g.23049066C>T						NIPA1_uc001yvd.2_Silent_p.A81A|NIPA1_uc001yve.2_Silent_p.A176A	p.A251A	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	778	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	251			Cytoplasmic (Potential).		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Silent	SNP	ENST00000337435.4	37	c.753G>A	CCDS10011.1																																																																																				PASS	0.597	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		15	57	15	57	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921553	24921553	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:24921553T>A	ENST00000329468.2	+	1	1013	c.539T>A	c.(538-540)cTt>cAt	p.L180H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	180					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L180H(1)									AGGACCCCCCTTAGCAGCGGA	0.607																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(538-540)CTT>CAT		hypothetical protein LOC23742							47.0	40.0	42.0					15																	24921553		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921553T>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.539T>A	15.37:g.24921553T>A	ENSP00000333735:p.Leu180His						p.L180H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1013	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	180						Missense_Mutation	SNP	ENST00000329468.2	37	c.539T>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.954	-0.705414	0.03255	.	.	ENSG00000185823	ENST00000329468	T	0.11277	2.79	2.03	-2.41	0.06562	.	5.007880	0.00589	N	0.000348	T	0.11623	0.0283	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.56088	0.791	T	0.29088	-1.0023	10	0.13853	T	0.58	.	0.011	0.00001	0.3043:0.1978:0.1893:0.3085	.	180	Q9NZP6	CO002_HUMAN	H	180	ENSP00000333735:L180H	ENSP00000333735:L180H	L	+	2	0	C15orf2	22472646	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.233000	0.01204	-0.601000	0.05783	0.352000	0.21897	CTT		PASS	0.607	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		33	32	33	32	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25932883	25932883	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:25932883G>T	ENST00000356865.6	-	16	3369	c.3258C>A	c.(3256-3258)gcC>gcA	p.A1086A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1086					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1086A(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCACCATGTTGGCAAGTCGGG	0.488																																						uc010ayu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3256-3258)GCC>GCA		ATPase, class V, type 10A							163.0	151.0	155.0					15																	25932883		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25932883G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3258C>A	15.37:g.25932883G>T							p.A1086A	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	16	3364	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1086			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.3258C>A	CCDS32178.1																																																																																				PASS	0.488	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		87	134	87	134	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25966902	25966902	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:25966902T>A	ENST00000356865.6	-	7	1376	c.1265A>T	c.(1264-1266)cAg>cTg	p.Q422L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	422					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q422L(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAAAATGTACTGTATCTGTCC	0.428																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1264-1266)CAG>CTG		ATPase, class V, type 10A							140.0	126.0	131.0					15																	25966902		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25966902T>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1265A>T	15.37:g.25966902T>A	ENSP00000349325:p.Gln422Leu						p.Q422L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	7	1371	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	422			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1265A>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804659	0.70682	.	.	ENSG00000206190	ENST00000356865	T	0.06768	3.26	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.055638	0.64402	D	0.000001	T	0.22859	0.0552	M	0.86268	2.805	0.58432	D	0.999994	P	0.45176	0.852	P	0.47470	0.548	T	0.02282	-1.1183	10	0.72032	D	0.01	-24.5474	15.6646	0.77217	0.0:0.0:0.0:1.0	.	422	O60312	AT10A_HUMAN	L	422	ENSP00000349325:Q422L	ENSP00000349325:Q422L	Q	-	2	0	ATP10A	23517995	1.000000	0.71417	0.997000	0.53966	0.286000	0.27126	7.772000	0.85439	2.105000	0.64084	0.448000	0.29417	CAG		PASS	0.428	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		57	134	57	134	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33926842	33926842	+	Missense_Mutation	SNP	G	G	A	rs575120914		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:33926842G>A	ENST00000389232.4	+	25	3153	c.3083G>A	c.(3082-3084)cGt>cAt	p.R1028H	RYR3_ENST00000415757.3_Missense_Mutation_p.R1028H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1028	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1028H(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGATGAGCGTACCAAGAAG	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19710	0.0		0.0	False		,,,				2504	0.0					uc001zhi.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3082-3084)CGT>CAT		ryanodine receptor 3							139.0	136.0	137.0					15																	33926842		1934	4143	6077	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33926842G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3083G>A	15.37:g.33926842G>A	ENSP00000373884:p.Arg1028His					RYR3_uc010bar.2_Missense_Mutation_p.R1028H	p.R1028H	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	25	3153	+		all_lung(180;7.18e-09)	1028			2.|B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3083G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831427	0.91036	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91521	-2.86;-2.86	5.35	5.35	0.76521	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.93013	0.6433	10	0.66056	D	0.02	.	12.8788	0.58006	0.074:0.0:0.926:0.0	.	1028;1028	Q15413-2;Q15413	.;RYR3_HUMAN	H	1028	ENSP00000373884:R1028H;ENSP00000399610:R1028H	ENSP00000354735:R1028H	R	+	2	0	RYR3	31714134	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.692000	0.84203	2.941000	0.99782	0.655000	0.94253	CGT		PASS	0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			23	110	23	110	---	---	---	---
INO80	54617	broad.mit.edu	37	15	41377648	41377648	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:41377648C>A	ENST00000361937.3	-	7	1216	c.792G>T	c.(790-792)aaG>aaT	p.K264N	INO80_ENST00000401393.3_Missense_Mutation_p.K264N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	264	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.K264N(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGTGCTTTTTCTTAGTGCCAG	0.483																																						uc001zni.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(790-792)AAG>AAT		INO80 complex homolog 1							138.0	128.0	132.0					15																	41377648		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41377648C>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.792G>T	15.37:g.41377648C>A	ENSP00000355205:p.Lys264Asn					INO80_uc010ucu.1_RNA	p.K264N	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			7	1005	-			264			Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.|Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.792G>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585199	0.86748	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91996	-2.95;-2.95	5.82	5.82	0.92795	.	0.049491	0.85682	D	0.000000	D	0.88973	0.6583	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	P	0.46585	0.521	D	0.88461	0.3055	10	0.37606	T	0.19	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	264	Q9ULG1	INO80_HUMAN	N	264	ENSP00000355205:K264N;ENSP00000384686:K264N	ENSP00000355205:K264N	K	-	3	2	INO80	39164940	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.793000	0.55484	2.765000	0.95021	0.650000	0.86243	AAG		PASS	0.483	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		46	210	46	210	---	---	---	---
GANC	2595	broad.mit.edu	37	15	42602892	42602892	+	Splice_Site	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:42602892A>T	ENST00000318010.8	+	10	1145	c.905A>T	c.(904-906)tAc>tTc	p.Y302F	GANC_ENST00000566442.1_Splice_Site_p.Y302F	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	302					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.Y302F(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TTTTTCCAGTACACACTGACC	0.418																																						uc001zpi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(904-906)TAC>TTC		glucosidase, alpha; neutral C							90.0	81.0	84.0					15																	42602892		2203	4299	6502	SO:0001630	splice_region_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42602892A>T	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.904-1A>T	15.37:g.42602892A>T						GANC_uc001zph.2_Missense_Mutation_p.Y302F|GANC_uc001zpj.1_Missense_Mutation_p.Y41F	p.Y302F	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	10	1219	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	302					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.905A>T	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	A	6.194	0.403992	0.11754	.	.	ENSG00000214013	ENST00000318010	D	0.86562	-2.14	5.9	2.2	0.27929	Glycoside hydrolase-type carbohydrate-binding (1);	1.121610	0.06616	N	0.756568	T	0.81069	0.4746	L	0.44542	1.39	0.09310	N	1	B;B	0.20261	0.043;0.001	B;B	0.15870	0.014;0.001	T	0.62029	-0.6940	10	0.27785	T	0.31	0.141	5.4051	0.16316	0.5823:0.2752:0.1425:0.0	.	302;302	Q8TET4;Q2M2A3	GANC_HUMAN;.	F	302	ENSP00000326227:Y302F	ENSP00000326227:Y302F	Y	+	2	0	GANC	40390184	0.611000	0.26992	0.003000	0.11579	0.052000	0.14988	1.734000	0.38166	0.111000	0.17947	0.519000	0.50382	TAC		PASS	0.418	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141	Missense_Mutation	32	102	32	102	---	---	---	---
LRRC57	255252	broad.mit.edu	37	15	42839477	42839477	+	Silent	SNP	G	G	C	rs370115315		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:42839477G>C	ENST00000323443.2	-	3	841	c.474C>G	c.(472-474)ctC>ctG	p.L158L	HAUS2_ENST00000260372.3_5'Flank|HAUS2_ENST00000568846.2_5'Flank|LRRC57_ENST00000397130.3_Silent_p.L158L|HAUS2_ENST00000568876.1_5'Flank|LRRC57_ENST00000563454.1_Silent_p.L158L			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	158						extracellular vesicular exosome (GO:0070062)		p.L158L(1)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GGTTGAGGTTGAGTTCGATGA	0.448																																						uc001zqd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)CTC>CTG		leucine rich repeat containing 57							92.0	82.0	85.0					15																	42839477		2203	4299	6502	SO:0001819	synonymous_variant	255252							g.chr15:42839477G>C	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.474C>G	15.37:g.42839477G>C						HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Silent_p.L158L	p.L158L	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	3	842	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	158			LRR 6.		Q7Z2Z6|Q8N1T6	Silent	SNP	ENST00000323443.2	37	c.474C>G	CCDS10089.1																																																																																				PASS	0.448	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		66	86	66	86	---	---	---	---
TGM7	116179	broad.mit.edu	37	15	43577058	43577058	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:43577058C>T	ENST00000452443.2	-	7	962	c.958G>A	c.(958-960)Gac>Aac	p.D320N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	320					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D320N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCATTTCGGTCATAGTACGTA	0.468																																						uc001zrf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(958-960)GAC>AAC		transglutaminase 7	L-Glutamine(DB00130)						267.0	216.0	234.0					15																	43577058		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43577058C>T	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.958G>A	15.37:g.43577058C>T	ENSP00000389466:p.Asp320Asn						p.D320N	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	7	963	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	320						Missense_Mutation	SNP	ENST00000452443.2	37	c.958G>A	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212941	0.58452	.	.	ENSG00000159495	ENST00000452443	T	0.52754	0.65	5.63	2.78	0.32641	Transglutaminase-like (2);	0.346810	0.29383	N	0.012309	T	0.30103	0.0754	N	0.16656	0.425	0.35268	D	0.780229	B	0.19817	0.039	B	0.28916	0.096	T	0.24870	-1.0148	10	0.23891	T	0.37	-26.6174	8.8854	0.35400	0.0:0.7586:0.0:0.2414	.	320	Q96PF1	TGM7_HUMAN	N	320	ENSP00000389466:D320N	ENSP00000389466:D320N	D	-	1	0	TGM7	41364350	0.413000	0.25400	0.969000	0.41365	0.882000	0.50991	0.821000	0.27338	0.772000	0.33382	-0.119000	0.15052	GAC		PASS	0.468	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		48	223	48	223	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63004276	63004276	+	Splice_Site	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:63004276G>C	ENST00000561311.1	+	21	2864	c.2634G>C	c.(2632-2634)aaG>aaC	p.K878N	TLN2_ENST00000306829.6_Splice_Site_p.K878N			Q9Y4G6	TLN2_HUMAN	talin 2	878	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K878N(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGCTGCAAAGGTATTCTACT	0.448																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(2632-2634)AAG>AAC		talin 2							41.0	42.0	42.0					15																	63004276		2203	4300	6503	SO:0001630	splice_region_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63004276G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2634+1G>C	15.37:g.63004276G>C							p.K878N	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			19	2634	+			878			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2634G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920986	0.92249	.	.	ENSG00000171914	ENST00000306829	T	0.75477	-0.94	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.88514	0.3091	10	0.72032	D	0.01	-30.4152	20.2602	0.98440	0.0:0.0:1.0:0.0	.	878	Q9Y4G6	TLN2_HUMAN	N	878	ENSP00000303476:K878N	ENSP00000303476:K878N	K	+	3	2	TLN2	60791568	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.699000	0.98703	2.861000	0.98227	0.655000	0.94253	AAG		PASS	0.448	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Missense_Mutation	22	48	22	48	---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65759515	65759515	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:65759515T>C	ENST00000341861.5	-	13	3211	c.1631A>G	c.(1630-1632)aAa>aGa	p.K544R	DPP8_ENST00000339244.5_Missense_Mutation_p.K371R|DPP8_ENST00000358939.4_Missense_Mutation_p.K528R|DPP8_ENST00000300141.6_Missense_Mutation_p.K528R|DPP8_ENST00000559233.1_Missense_Mutation_p.K544R|DPP8_ENST00000321147.6_Missense_Mutation_p.K544R|DPP8_ENST00000321118.7_Missense_Mutation_p.K544R	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	544					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.K528R(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGGGAGTCTTTGGTGCCTTC	0.448																																						uc002aov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1630-1632)AAA>AGA		dipeptidyl peptidase 8 isoform 1							121.0	115.0	117.0					15																	65759515		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65759515T>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1631A>G	15.37:g.65759515T>C	ENSP00000339208:p.Lys544Arg					DPP8_uc002aow.2_Missense_Mutation_p.K544R|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.K528R|DPP8_uc002aoy.2_Missense_Mutation_p.K544R|DPP8_uc002aoz.2_Missense_Mutation_p.K528R|DPP8_uc010bhj.2_Missense_Mutation_p.K544R|DPP8_uc002apa.2_Missense_Mutation_p.K441R|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.K113R	p.K544R	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			13	3209	-			544					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.1631A>G	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	9.454	1.091455	0.20471	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.56	5.56	0.83823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.31845	0.965	0.40443	D	0.980062	B;B;D;B;B	0.67145	0.226;0.044;0.996;0.09;0.055	B;B;D;B;B	0.76071	0.241;0.045;0.987;0.101;0.123	T	0.20472	-1.0274	10	0.18710	T	0.47	-28.7024	15.7069	0.77592	0.0:0.0:0.0:1.0	.	371;528;528;544;544	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	R	544;528;528;544;544;371;544	ENSP00000339208:K544R;ENSP00000351817:K528R;ENSP00000300141:K528R;ENSP00000318111:K544R;ENSP00000316373:K544R;ENSP00000341230:K371R;ENSP00000379013:K544R	ENSP00000300141:K528R	K	-	2	0	DPP8	63546568	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.428000	0.44749	2.102000	0.63906	0.383000	0.25322	AAA		PASS	0.448	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		34	56	34	56	---	---	---	---
REC114	283677	broad.mit.edu	37	15	73852191	73852191	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:73852191G>C	ENST00000331090.6	+	6	763	c.735G>C	c.(733-735)caG>caC	p.Q245H	C15orf60_ENST00000560581.1_Missense_Mutation_p.Q217H	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		245					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.Q245H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TTATGGATCAGAATTTCCCAG	0.438																																						uc002avq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(733-735)CAG>CAC		hypothetical protein LOC283677							89.0	89.0	89.0					15																	73852191		1833	4082	5915	SO:0001583	missense	283677							g.chr15:73852191G>C																												ENST00000331090.6:c.735G>C	15.37:g.73852191G>C	ENSP00000328423:p.Gln245His					C15orf60_uc010bjb.2_Missense_Mutation_p.Q217H	p.Q245H	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			6	763	+			245						Missense_Mutation	SNP	ENST00000331090.6	37	c.735G>C	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707747	0.48412	.	.	ENSG00000183324	ENST00000331090	T	0.50277	0.75	6.02	3.05	0.35203	.	0.136189	0.50627	D	0.000118	T	0.47340	0.1440	M	0.63428	1.95	0.38023	D	0.934906	P	0.36162	0.54	B	0.41666	0.363	T	0.50717	-0.8795	10	0.66056	D	0.02	-6.2492	8.2956	0.31984	0.1877:0.1171:0.6952:0.0	.	245	Q7Z4M0	CO060_HUMAN	H	245	ENSP00000328423:Q245H	ENSP00000328423:Q245H	Q	+	3	2	C15orf60	71639244	1.000000	0.71417	0.981000	0.43875	0.946000	0.59487	2.323000	0.43823	0.392000	0.25172	0.650000	0.86243	CAG		PASS	0.438	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			52	97	52	97	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86807662	86807662	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:86807662G>T	ENST00000441037.2	+	10	1217	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	AGBL1_ENST00000421325.2_Missense_Mutation_p.K374N|AGBL1_ENST00000389298.3_Missense_Mutation_p.K105N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	374					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K374N(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGGTGAAGACGGGAAGGT	0.483																																						uc002blz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)AAG>AAT		ATP/GTP binding protein-like 1							53.0	58.0	57.0					15																	86807662		2171	4278	6449	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86807662G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1122G>T	15.37:g.86807662G>T	ENSP00000413001:p.Lys374Asn					AGBL1_uc002bma.1_Missense_Mutation_p.K105N|AGBL1_uc002bmb.1_Missense_Mutation_p.K68N	p.K374N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			10	1202	+			374					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1122G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843381	0.51057	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11821	2.76;2.74	5.71	4.78	0.61160	Armadillo-type fold (1);	0.367833	0.29198	N	0.012845	T	0.30386	0.0763	L	0.55834	1.745	0.29475	N	0.856793	D;D;D	0.89917	1.0;0.993;1.0	D;P;D	0.81914	0.995;0.89;0.972	T	0.01657	-1.1302	10	0.42905	T	0.14	-36.5385	13.0059	0.58703	0.0785:0.0:0.9215:0.0	.	73;105;374	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	N	403;374;105	ENSP00000397173:K374N;ENSP00000373949:K105N	ENSP00000373949:K105N	K	+	3	2	AGBL1	84608666	0.998000	0.40836	0.967000	0.41034	0.042000	0.13812	2.861000	0.48380	2.861000	0.98227	0.650000	0.86243	AAG		PASS	0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		24	29	24	29	---	---	---	---
SPATA8	145946	broad.mit.edu	37	15	97326950	97326950	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr15:97326950C>A	ENST00000328504.3	+	1	332	c.65C>A	c.(64-66)tCt>tAt	p.S22Y	SPATA8-AS1_ENST00000560888.1_RNA|SPATA8-AS1_ENST00000558722.1_RNA|SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	22								p.S22Y(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			ATTGCCCCCTCTTTTCAGAGG	0.557																																						uc002bue.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(64-66)TCT>TAT		spermatogenesis associated 8							77.0	67.0	70.0					15																	97326950		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97326950C>A	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.65C>A	15.37:g.97326950C>A	ENSP00000328149:p.Ser22Tyr					uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.S22Y	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		1	275	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		22					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.65C>A	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	C	5.271	0.235378	0.10023	.	.	ENSG00000185594	ENST00000328504	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.37293	0.0998	N	0.08118	0	0.29333	N	0.866586	D	0.89917	1.0	D	0.78314	0.991	T	0.24512	-1.0158	8	0.87932	D	0	.	10.2724	0.43491	0.0:1.0:0.0:0.0	.	22	Q6RVD6	SPAT8_HUMAN	Y	22	.	ENSP00000328149:S22Y	S	+	2	0	SPATA8	95127954	0.000000	0.05858	0.016000	0.15963	0.055000	0.15305	0.057000	0.14279	2.125000	0.65367	0.561000	0.74099	TCT		PASS	0.557	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		23	57	23	57	---	---	---	---
PRSS21	10942	broad.mit.edu	37	16	2868807	2868807	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:2868807C>T	ENST00000005995.3	+	4	429	c.387C>T	c.(385-387)cgC>cgT	p.R129R	PRSS21_ENST00000450020.3_Silent_p.R129R|PRSS21_ENST00000455114.1_Silent_p.R127R			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R129R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TGAGCCCTCGCTACCTGGGGA	0.532																																						uc002crt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(385-387)CGC>CGT		testisin isoform 1							208.0	167.0	181.0					16																	2868807		2198	4300	6498	SO:0001819	synonymous_variant	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2868807C>T	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.387C>T	16.37:g.2868807C>T						PRSS21_uc002crs.2_Silent_p.R127R|PRSS21_uc002crr.2_Silent_p.R129R	p.R129R	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN			4	493	+			129			Peptidase S1.		Q9NS34|Q9P2V6	Silent	SNP	ENST00000005995.3	37	c.387C>T	CCDS10478.1																																																																																				PASS	0.532	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		85	156	85	156	---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3165878	3165878	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:3165878G>C	ENST00000382192.3	+	4	525	c.320G>C	c.(319-321)aGa>aCa	p.R107T	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R107T|ZNF205-AS1_ENST00000572691.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	107					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R107T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGGAGGACCAGAGACCGGCAG	0.667																																						uc002cub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)AGA>ACA		zinc finger protein 205							35.0	36.0	36.0					16																	3165878		2197	4300	6497	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3165878G>C	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.320G>C	16.37:g.3165878G>C	ENSP00000371627:p.Arg107Thr					MGC3771_uc010bte.2_5'Flank|MGC3771_uc002ctz.3_5'Flank|ZNF205_uc002cua.2_Missense_Mutation_p.R107T	p.R107T	NM_001042428	NP_001035893	O95201	ZN205_HUMAN			4	455	+			107					A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.320G>C	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962539	0.74016	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000444510;ENST00000414351	T;T;T;T	0.68624	3.04;3.04;-0.34;2.97	5.23	5.23	0.72850	.	0.000000	0.48286	D	0.000197	T	0.76456	0.3990	L	0.56769	1.78	0.33763	D	0.622104	D	0.69078	0.997	D	0.63488	0.915	T	0.78473	-0.2190	10	0.25106	T	0.35	-20.7554	16.6757	0.85278	0.0:0.0:1.0:0.0	.	107	O95201	ZN205_HUMAN	T	107	ENSP00000371627:R107T;ENSP00000219091:R107T;ENSP00000394360:R107T;ENSP00000403306:R107T	ENSP00000219091:R107T	R	+	2	0	ZNF205	3105879	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.004000	0.63966	2.619000	0.88677	0.491000	0.48974	AGA		PASS	0.667	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		14	39	14	39	---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3166446	3166446	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:3166446G>A	ENST00000382192.3	+	5	587	c.382G>A	c.(382-384)Gat>Aat	p.D128N	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.D128N|ZNF205-AS1_ENST00000572691.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	128	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D128N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GACTTTCGAGGATGTGGCCTT	0.547																																						uc002cub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)GAT>AAT		zinc finger protein 205							218.0	132.0	161.0					16																	3166446		2197	4300	6497	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3166446G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.382G>A	16.37:g.3166446G>A	ENSP00000371627:p.Asp128Asn					MGC3771_uc010bte.2_5'Flank|MGC3771_uc002ctz.3_5'Flank|ZNF205_uc002cua.2_Missense_Mutation_p.D128N	p.D128N	NM_001042428	NP_001035893	O95201	ZN205_HUMAN			5	517	+			128			KRAB.		A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.382G>A	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742577	0.89573	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000414351	T;T;T	0.11169	2.8;2.8;2.8	4.85	4.85	0.62838	Krueppel-associated box (4);	0.275715	0.25935	N	0.027358	T	0.43809	0.1264	M	0.93763	3.455	0.30328	N	0.786884	D	0.89917	1.0	D	0.91635	0.999	T	0.57015	-0.7883	10	0.62326	D	0.03	-3.1084	15.5746	0.76365	0.0:0.0:1.0:0.0	.	128	O95201	ZN205_HUMAN	N	128	ENSP00000371627:D128N;ENSP00000219091:D128N;ENSP00000403306:D128N	ENSP00000219091:D128N	D	+	1	0	ZNF205	3106447	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	4.263000	0.58853	2.534000	0.85438	0.650000	0.86243	GAT		PASS	0.547	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		13	83	13	83	---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3166483	3166483	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:3166483G>A	ENST00000382192.3	+	5	624	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R140Q|ZNF205-AS1_ENST00000572691.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	140	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R140Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GAGTGGGGACGGCTGGACCAC	0.557																																						uc002cub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)CGG>CAG		zinc finger protein 205							166.0	113.0	131.0					16																	3166483		2197	4300	6497	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3166483G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.419G>A	16.37:g.3166483G>A	ENSP00000371627:p.Arg140Gln					MGC3771_uc010bte.2_5'Flank|MGC3771_uc002ctz.3_5'Flank|ZNF205_uc002cua.2_Missense_Mutation_p.R140Q	p.R140Q	NM_001042428	NP_001035893	O95201	ZN205_HUMAN			5	554	+			140			KRAB.		A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.419G>A	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234610	0.58886	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000414351	T;T;T	0.01538	4.79;4.79;4.79	4.85	0.457	0.16661	Krueppel-associated box (4);	0.949904	0.08649	N	0.914353	T	0.00998	0.0033	N	0.03948	-0.315	0.09310	N	1	B	0.24576	0.106	B	0.13407	0.009	T	0.49031	-0.8981	10	0.27785	T	0.31	-8.4677	8.007	0.30332	0.3937:0.0:0.6063:0.0	.	140	O95201	ZN205_HUMAN	Q	140	ENSP00000371627:R140Q;ENSP00000219091:R140Q;ENSP00000403306:R140Q	ENSP00000219091:R140Q	R	+	2	0	ZNF205	3106484	0.000000	0.05858	0.886000	0.34754	0.940000	0.58332	-0.643000	0.05421	0.268000	0.21939	0.650000	0.86243	CGG		PASS	0.557	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		17	70	17	70	---	---	---	---
ZNF205	7755	broad.mit.edu	37	16	3169513	3169513	+	Silent	SNP	G	G	A	rs369182482		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:3169513G>A	ENST00000382192.3	+	7	1057	c.852G>A	c.(850-852)gaG>gaA	p.E284E	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.E284E	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	284					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E284E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGCCCAACGAGGAGGAGAAGG	0.706																																						uc002cub.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(850-852)GAG>GAA		zinc finger protein 205							18.0	24.0	22.0					16																	3169513		2191	4295	6486	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3169513G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.852G>A	16.37:g.3169513G>A						ZNF205_uc002cua.2_Silent_p.E284E	p.E284E	NM_001042428	NP_001035893	O95201	ZN205_HUMAN			7	987	+			284					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.852G>A	CCDS10494.2																																																																																				PASS	0.706	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		4	11	4	11	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15850288	15850288	+	Silent	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:15850288C>G	ENST00000300036.5	-	14	1768	c.1659G>C	c.(1657-1659)ctG>ctC	p.L553L	MYH11_ENST00000396324.3_Silent_p.L560L|MYH11_ENST00000576790.2_Silent_p.L553L|MYH11_ENST00000452625.2_Silent_p.L560L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	553	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.L560L(1)|p.L553L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTCCGTGCACAGCTTCTCCA	0.567			T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(1657-1659)CTG>CTC		smooth muscle myosin heavy chain 11 isoform							124.0	97.0	106.0					16																	15850288		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15850288C>G	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1659G>C	16.37:g.15850288C>G			OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	705	MYH11_uc002ddv.2_Silent_p.L560L|MYH11_uc002ddw.2_Silent_p.L553L|MYH11_uc002ddx.2_Silent_p.L560L|MYH11_uc010bvg.2_Silent_p.L385L|MYH11_uc002dea.1_Silent_p.L259L	p.L553L	NM_002474	NP_002465	P35749	MYH11_HUMAN			14	1766	-			553			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.1659G>C	CCDS10565.1																																																																																				PASS	0.567	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		52	43	52	43	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18830965	18830965	+	Silent	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:18830965A>G	ENST00000446231.2	-	56	10165	c.9753T>C	c.(9751-9753)gcT>gcC	p.A3251A	SMG1_ENST00000389467.3_Silent_p.A3252A			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3251					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A3247A(1)|p.A3251A(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTCAAGTGCAGCTAGCTTCT	0.408																																						uc002dfm.2																			2	Substitution - coding silent(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(9751-9753)GCT>GCC		PI-3-kinase-related kinase SMG-1							37.0	35.0	36.0					16																	18830965		1872	4109	5981	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18830965A>G	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9753T>C	16.37:g.18830965A>G						SMG1_uc010bwb.2_Silent_p.A3111A|SMG1_uc010bwa.2_Silent_p.A1982A	p.A3251A	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			56	10116	-			3251					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.9753T>C	CCDS45430.1																																																																																				PASS	0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	3	5	3	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489923	20489923	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:20489923T>G	ENST00000573854.1	+	10	1319	c.1205T>G	c.(1204-1206)cTg>cGg	p.L402R	ACSM2A_ENST00000219054.6_Missense_Mutation_p.L402R|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L402R|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L402R|ACSM2A_ENST00000417235.2_Missense_Mutation_p.L323R|ACSM2A_ENST00000536134.1_Missense_Mutation_p.L174R	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.L402R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCAACGTCCTGCCCCCCGGC	0.502																																						uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(1204-1206)CTG>CGG		acyl-CoA synthetase medium-chain family member							95.0	80.0	85.0					16																	20489923		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489923T>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1205T>G	16.37:g.20489923T>G	ENSP00000459451:p.Leu402Arg					ACSM2A_uc010vax.1_Missense_Mutation_p.L323R|ACSM2A_uc002dhf.3_Missense_Mutation_p.L402R|ACSM2A_uc002dhg.3_Missense_Mutation_p.L402R|ACSM2A_uc010vay.1_Missense_Mutation_p.L323R|ACSM2A_uc002dhh.3_Missense_Mutation_p.L32R	p.L402R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			11	1444	+			402					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1205T>G	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656914	0.29425	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	3.33	3.33	0.38152	AMP-dependent synthetase/ligase (1);	0.444448	0.16743	N	0.201367	T	0.67306	0.2879	M	0.69823	2.125	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.65684	0.936;0.937	T	0.69450	-0.5142	10	0.87932	D	0	-1.4728	10.368	0.44035	0.0:0.0:0.0:1.0	.	323;402	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	R	323;402;174;402	ENSP00000392169:L323R;ENSP00000219054:L402R;ENSP00000445082:L174R;ENSP00000379411:L402R	ENSP00000219054:L402R	L	+	2	0	ACSM2A	20397424	1.000000	0.71417	0.592000	0.28758	0.048000	0.14542	5.256000	0.65468	1.306000	0.44926	0.240000	0.17902	CTG		PASS	0.502	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		23	115	23	115	---	---	---	---
EEF2K	29904	broad.mit.edu	37	16	22237271	22237271	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:22237271C>G	ENST00000263026.5	+	2	695	c.221C>G	c.(220-222)tCc>tGc	p.S74C		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	74					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.S74C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCAGCGGGTCCCCGGCAAAC	0.522																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(220-222)TCC>TGC		elongation factor-2 kinase							68.0	64.0	66.0					16																	22237271		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22237271C>G	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.221C>G	16.37:g.22237271C>G	ENSP00000263026:p.Ser74Cys					EEF2K_uc002dkh.2_RNA	p.S74C	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	2	706	+			74					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.221C>G	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319578	0.60524	.	.	ENSG00000103319	ENST00000263026	T	0.09630	2.96	5.58	5.58	0.84498	.	0.151555	0.52532	D	0.000078	T	0.27559	0.0677	L	0.54323	1.7	0.53005	D	0.999964	D	0.76494	0.999	P	0.59703	0.862	T	0.00180	-1.1949	10	0.56958	D	0.05	-13.5525	19.5744	0.95436	0.0:1.0:0.0:0.0	.	74	O00418	EF2K_HUMAN	C	74	ENSP00000263026:S74C	ENSP00000263026:S74C	S	+	2	0	EEF2K	22144772	1.000000	0.71417	0.988000	0.46212	0.200000	0.23975	5.490000	0.66881	2.620000	0.88729	0.557000	0.71058	TCC		PASS	0.522	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		24	50	24	50	---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23392036	23392036	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:23392036C>A	ENST00000343070.2	+	13	2013	c.1837C>A	c.(1837-1839)Cca>Aca	p.P613T	SCNN1B_ENST00000568923.1_Missense_Mutation_p.P586T|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P577T|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P658T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	613					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.P613T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTGCCCATCCCAGGCACCCC	0.672																																						uc002dln.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7						c.(1837-1839)CCA>ACA		sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)						22.0	27.0	25.0					16																	23392036		2195	4294	6489	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23392036C>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1837C>A	16.37:g.23392036C>A	ENSP00000345751:p.Pro613Thr						p.P613T	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	13	2013	+			613			Cytoplasmic (By similarity).		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.1837C>A	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621711	0.66787	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.80653	-1.4;-1.4	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000007	T	0.80325	0.4602	N	0.08118	0	0.51767	D	0.999936	D	0.89917	1.0	D	0.85130	0.997	D	0.84370	0.0543	10	0.51188	T	0.08	-32.0172	16.9059	0.86127	0.0:1.0:0.0:0.0	.	613	P51168	SCNNB_HUMAN	T	613;658	ENSP00000345751:P613T;ENSP00000302874:P658T	ENSP00000302874:P658T	P	+	1	0	SCNN1B	23299537	1.000000	0.71417	0.996000	0.52242	0.570000	0.35934	5.890000	0.69774	2.196000	0.70406	0.643000	0.83706	CCA		PASS	0.672	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			12	52	12	52	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25258570	25258570	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:25258570A>T	ENST00000328086.7	-	5	1750	c.947T>A	c.(946-948)gTc>gAc	p.V316D		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	316					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V316D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCTTGCAGGGACCTGAATAGC	0.463																																						uc002dod.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(946-948)GTC>GAC		zinc finger with KRAB and SCAN domains 2							126.0	115.0	119.0					16																	25258570		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258570A>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.947T>A	16.37:g.25258570A>T	ENSP00000331626:p.Val316Asp					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.V112D|ZKSCAN2_uc002doe.2_Missense_Mutation_p.V316D	p.V316D	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	1354	-			316					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.947T>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.098264	0.37048	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07688	3.17	6.06	2.14	0.27477	.	0.418652	0.23334	N	0.049306	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	0.999998	B;P;B	0.40250	0.09;0.709;0.201	B;B;B	0.43754	0.021;0.43;0.021	T	0.25187	-1.0139	10	0.54805	T	0.06	-3.2852	5.3164	0.15858	0.6738:0.153:0.1732:0.0	.	112;316;316	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	D	316	ENSP00000331626:V316D	ENSP00000331626:V316D	V	-	2	0	ZKSCAN2	25166071	0.000000	0.05858	0.981000	0.43875	0.692000	0.40212	-0.195000	0.09546	0.508000	0.28173	0.533000	0.62120	GTC		PASS	0.463	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		82	107	82	107	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48180233	48180233	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:48180233C>A	ENST00000311303.3	-	1	448	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	ABCC12_ENST00000416054.1_Missense_Mutation_p.V35L|ABCC12_ENST00000448542.1_Missense_Mutation_p.V35L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	35						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V35L(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAGGGTCGCACTGGGATCATG	0.577																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(103-105)GTG>TTG		ATP-binding cassette protein C12							177.0	151.0	160.0					16																	48180233		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48180233C>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.103G>T	16.37:g.48180233C>A	ENSP00000311030:p.Val35Leu					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V35L|ABCC12_uc010vgj.1_RNA	p.V35L	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			1	449	-		all_cancers(37;0.0474)|all_lung(18;0.047)	35					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.103G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.142028	0.21205	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.92397	-2.76;-2.95;-3.03;-2.4	5.45	0.817	0.18773	.	0.421766	0.25593	N	0.029611	T	0.74696	0.3750	N	0.04508	-0.205	0.27969	N	0.936462	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.61879	-0.6972	10	0.08599	T	0.76	.	4.2815	0.10834	0.3752:0.4432:0.0:0.1816	.	35;35	Q96J65-2;Q96J65	.;MRP9_HUMAN	L	35	ENSP00000311030:V35L;ENSP00000401855:V35L;ENSP00000413046:V35L;ENSP00000436647:V35L	ENSP00000311030:V35L	V	-	1	0	ABCC12	46737734	0.015000	0.18098	0.975000	0.42487	0.841000	0.47740	-0.165000	0.09968	0.255000	0.21593	-0.177000	0.13119	GTG		PASS	0.577	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		23	78	23	78	---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48337093	48337093	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:48337093G>A	ENST00000285737.4	+	11	1765	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	LONP2_ENST00000535754.1_Missense_Mutation_p.E514K	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.E558K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTATACCAGAGAGGCAGGGGT	0.413																																						uc002efi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1672-1674)GAG>AAG		peroxisomal LON protease-like							86.0	85.0	85.0					16																	48337093		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48337093G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1672G>A	16.37:g.48337093G>A	ENSP00000285737:p.Glu558Lys					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.E514K	p.E558K	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			11	1761	+			558						Missense_Mutation	SNP	ENST00000285737.4	37	c.1672G>A	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625882	0.96671	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.40756	1.02;1.02;1.02	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.85059	0.0933	10	0.87932	D	0	-34.1149	19.4471	0.94852	0.0:0.0:1.0:0.0	.	514;558	B7ZKL7;Q86WA8	.;LONP2_HUMAN	K	558;287;514;514	ENSP00000285737:E558K;ENSP00000445426:E514K;ENSP00000415983:E514K	ENSP00000285737:E558K	E	+	1	0	LONP2	46894594	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.460000	0.97641	2.824000	0.97209	0.655000	0.94253	GAG		PASS	0.413	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		20	41	20	41	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745180	50745180	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:50745180A>G	ENST00000300589.2	+	4	1463	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	453	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.E453G(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAGGGCATCGAGCTGTACCTG	0.637																																						uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1357-1359)GAG>GGG		nucleotide-binding oligomerization domain							66.0	70.0	69.0					16																	50745180		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745180A>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1358A>G	16.37:g.50745180A>G	ENSP00000300589:p.Glu453Gly					NOD2_uc010cbk.1_Missense_Mutation_p.E426G|NOD2_uc002egl.1_Missense_Mutation_p.E231G|NOD2_uc010cbl.1_Missense_Mutation_p.E231G|NOD2_uc010cbm.1_Missense_Mutation_p.E231G|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.E453G	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1463	+		all_cancers(37;0.0156)	453			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1358A>G	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.302644	0.23736	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79033	-1.23	5.12	2.78	0.32641	.	0.341803	0.25222	N	0.032226	T	0.82001	0.4942	M	0.81341	2.54	0.09310	N	1	D;P;D	0.59767	0.974;0.835;0.986	P;B;P	0.56398	0.727;0.397;0.797	T	0.73084	-0.4094	10	0.72032	D	0.01	.	4.0549	0.09813	0.634:0.1803:0.1857:0.0	.	237;426;453	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	G	426;453	ENSP00000300589:E453G	ENSP00000300589:E453G	E	+	2	0	NOD2	49302681	0.901000	0.30685	0.031000	0.17742	0.033000	0.12548	4.525000	0.60559	0.258000	0.21686	0.459000	0.35465	GAG		PASS	0.637	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		28	87	28	87	---	---	---	---
CES5A	221223	broad.mit.edu	37	16	55903629	55903629	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:55903629A>T	ENST00000290567.9	-	4	566	c.445T>A	c.(445-447)Ttc>Atc	p.F149I	CES5A_ENST00000319165.9_Missense_Mutation_p.F149I|CES5A_ENST00000520435.1_Missense_Mutation_p.F119I|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Missense_Mutation_p.F43I|CES5A_ENST00000521992.1_Missense_Mutation_p.F178I	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	149						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.F178I(1)|p.F149I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCAGTCTTGAAGGCACCTCCT	0.587																																						uc002eip.2																			2	Substitution - Missense(2)		lung(2)		0						c.(445-447)TTC>ATC		carboxylesterase 7 isoform 1							67.0	48.0	55.0					16																	55903629		2198	4300	6498	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55903629A>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.445T>A	16.37:g.55903629A>T	ENSP00000290567:p.Phe149Ile					CES7_uc002eio.2_Missense_Mutation_p.F149I|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.F43I	p.F149I	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	4	594	-			149					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.445T>A	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664347	0.29604	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;T	0.73469	2.71;2.71;2.71;2.71;2.71;-0.75	4.94	4.94	0.65067	Carboxylesterase, type B (1);	0.079796	0.45606	D	0.000352	D	0.88822	0.6541	H	0.97940	4.11	0.36559	D	0.872287	D;P	0.65815	0.995;0.944	P;P	0.62491	0.903;0.69	D	0.92192	0.5760	10	0.66056	D	0.02	.	7.6167	0.28163	0.9045:0.0:0.0955:0.0	.	149;149	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	I	178;149;43;149;119;43	ENSP00000428864:F178I;ENSP00000324271:F149I;ENSP00000428571:F43I;ENSP00000290567:F149I;ENSP00000428887:F119I;ENSP00000439810:F43I	ENSP00000290567:F149I	F	-	1	0	CES5A	54461130	0.140000	0.22579	0.671000	0.29857	0.021000	0.10359	0.832000	0.27490	1.977000	0.57605	0.455000	0.32223	TTC		PASS	0.587	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		7	20	7	20	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68849430	68849430	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:68849430G>C	ENST00000261769.5	+	10	1524	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.E384Q	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	445	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.G441_E463del(1)|p.L442fs*18(1)|p.?(1)|p.E445Q(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTGGATTTTGAGGCCAAGCA	0.418			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		4	Substitution - Missense(1)|Unknown(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.G441_E463del(1)|p.L442fs*18(1)	breast(2)|lung(1)|stomach(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1333-1335)GAG>CAG		cadherin 1, type 1 preproprotein							113.0	95.0	101.0					16																	68849430		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68849430G>C	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1333G>C	16.37:g.68849430G>C	ENSP00000261769:p.Glu445Gln					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E384Q	p.E445Q	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	10	1457	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	445			Cadherin 3.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1333G>C	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336682	0.60963	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.72942	-0.7;-0.13	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	0.000000	0.51477	D	0.000093	D	0.91092	0.7196	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94117	0.7376	10	0.87932	D	0	.	19.433	0.94779	0.0:0.0:1.0:0.0	.	384;445	Q9UII8;P12830	.;CADH1_HUMAN	Q	445;463;445;384	ENSP00000261769:E445Q;ENSP00000414946:E384Q	ENSP00000261769:E445Q	E	+	1	0	CDH1	67406931	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.549000	0.82163	2.694000	0.91930	0.555000	0.69702	GAG		PASS	0.418	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		27	69	27	69	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71483060	71483060	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:71483060T>A	ENST00000393539.2	-	6	1681	c.868A>T	c.(868-870)Agc>Tgc	p.S290C	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.S290C|ZNF23_ENST00000564528.1_Missense_Mutation_p.S232C|ZNF23_ENST00000428724.2_Missense_Mutation_p.S232C|ZNF23_ENST00000357254.4_Missense_Mutation_p.S290C|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	290					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.S290C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAACTACAGCTGAAGCCATTT	0.443																																						uc002faf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)AGC>TGC		zinc finger protein 23							85.0	84.0	84.0					16																	71483060		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483060T>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.868A>T	16.37:g.71483060T>A	ENSP00000377171:p.Ser290Cys					ZNF23_uc002fad.2_Missense_Mutation_p.S232C|ZNF23_uc002fae.2_Missense_Mutation_p.S232C|ZNF23_uc010vmf.1_Missense_Mutation_p.S232C|ZNF23_uc002fag.2_Missense_Mutation_p.S232C|ZNF23_uc002fah.2_Missense_Mutation_p.S290C|ZNF23_uc002fai.2_Missense_Mutation_p.S329C	p.S290C	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1682	-		Ovarian(137;0.00768)	290			C2H2-type 5.		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.868A>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056604	0.55325	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	4.15	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.124812	0.37178	N	0.002220	T	0.32466	0.0830	L	0.58810	1.83	0.25144	N	0.990478	B;D	0.65815	0.078;0.995	B;P	0.59115	0.085;0.852	T	0.05178	-1.0901	10	0.54805	T	0.06	-10.8049	7.4561	0.27268	0.0:0.1087:0.0:0.8913	.	290;290	B3KR55;P17027	.;ZNF23_HUMAN	C	290;290;290;232;232;90	ENSP00000377171:S290C;ENSP00000349796:S290C;ENSP00000395712:S290C;ENSP00000387673:S232C	ENSP00000349796:S290C	S	-	1	0	ZNF23	70040561	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	0.005000	0.13129	0.945000	0.37605	0.459000	0.35465	AGC		PASS	0.443	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		32	115	32	115	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821815	72821815	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:72821815C>A	ENST00000268489.5	-	10	11032	c.10360G>T	c.(10360-10362)Gac>Tac	p.D3454Y	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2540Y	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3454					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D3454Y(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGAAGGGGTCGTAGAGGGAG	0.582																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(10360-10362)GAC>TAC		zinc finger homeobox 3 isoform A							89.0	90.0	90.0					16																	72821815		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821815C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10360G>T	16.37:g.72821815C>A	ENSP00000268489:p.Asp3454Tyr					ZFHX3_uc002fcl.2_Missense_Mutation_p.D2540Y	p.D3454Y	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11033	-		Ovarian(137;0.13)	3454					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10360G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280530	0.40294	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.88277	-2.36;-2.36	4.3	4.3	0.51218	.	0.000000	0.50627	D	0.000105	D	0.92922	0.7748	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93963	0.7242	10	0.87932	D	0	.	17.1324	0.86729	0.0:1.0:0.0:0.0	.	3454	Q15911	ZFHX3_HUMAN	Y	3454;2540	ENSP00000268489:D3454Y;ENSP00000438926:D2540Y	ENSP00000268489:D3454Y	D	-	1	0	ZFHX3	71379316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.925000	0.70062	2.115000	0.64714	0.557000	0.71058	GAC		PASS	0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		42	142	42	142	---	---	---	---
ADAT1	23536	broad.mit.edu	37	16	75646400	75646400	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:75646400T>A	ENST00000307921.3	-	7	929	c.784A>T	c.(784-786)Aag>Tag	p.K262*		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	262	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.K262*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GGTACACACTTGGCTCCAGTT	0.562																																						uc002feo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(784-786)AAG>TAG		adenosine deaminase, tRNA-specific 1							87.0	85.0	86.0					16																	75646400		2198	4300	6498	SO:0001587	stop_gained	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75646400T>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.784A>T	16.37:g.75646400T>A	ENSP00000310015:p.Lys262*					ADAT1_uc002fep.1_Nonsense_Mutation_p.K113*	p.K262*	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			7	886	-			262			A to I editase.		Q9NVB7|Q9UNG3	Nonsense_Mutation	SNP	ENST00000307921.3	37	c.784A>T	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	T	37	6.517555	0.97629	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	.	.	.	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.9887	14.8233	0.70091	0.0:0.0:0.0:1.0	.	.	.	.	X	262;233	.	ENSP00000310015:K262X	K	-	1	0	ADAT1	74203901	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.784000	0.85713	2.172000	0.68678	0.533000	0.62120	AAG		PASS	0.562	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		34	99	34	99	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76509861	76509861	+	Missense_Mutation	SNP	G	G	C	rs150806968		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:76509861G>C	ENST00000476707.1	+	10	1829	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G512R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G488R|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.G560R			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	561	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.G488R(1)|p.G560R(1)|p.G536R(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGTGAACACGGTGGGGAGTG	0.428																																						uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1681-1683)GGT>CGT		cell recognition protein CASPR4 isoform 1							159.0	140.0	147.0					16																	76509861		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76509861G>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1690G>C	16.37:g.76509861G>C	ENSP00000417628:p.Gly564Arg					CNTNAP4_uc002fev.1_Missense_Mutation_p.G425R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G488R|CNTNAP4_uc002fex.1_Missense_Mutation_p.G564R|CNTNAP4_uc002few.2_Missense_Mutation_p.G536R	p.G561R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			13	2066	+			561			Extracellular (Potential).|EGF-like 1.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1681G>C		.	.	.	.	.	.	.	.	.	.	G	12.47	1.947586	0.34377	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.32	5.32	0.75619	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.40469	N	0.001099	T	0.62950	0.2470	.	.	.	0.52501	D	0.999953	P;P;D;P	0.54047	0.956;0.956;0.964;0.669	P;P;P;B	0.54499	0.651;0.7;0.754;0.398	T	0.65245	-0.6215	9	0.62326	D	0.03	.	12.5047	0.55975	0.0756:0.0:0.9244:0.0	.	488;564;536;561	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	R	560;512;488;564	ENSP00000306893:G560R;ENSP00000439733:G512R;ENSP00000418741:G488R;ENSP00000417628:G564R	ENSP00000306893:G560R	G	+	1	0	CNTNAP4	75067362	1.000000	0.71417	0.239000	0.24122	0.130000	0.20726	5.579000	0.67457	2.773000	0.95371	0.655000	0.94253	GGT		PASS	0.428	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		8	67	8	67	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76556094	76556094	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:76556094A>T	ENST00000476707.1	+	16	2843	c.2704A>T	c.(2704-2706)Aca>Tca	p.T902S	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T850S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T826S|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.T898S			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	899	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.T826S(1)|p.T898S(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GACACCAAAGACACAGCCCGC	0.498																																						uc002feu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2695-2697)ACA>TCA		cell recognition protein CASPR4 isoform 1							88.0	92.0	90.0					16																	76556094		2055	4226	6281	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76556094A>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2704A>T	16.37:g.76556094A>T	ENSP00000417628:p.Thr902Ser					CNTNAP4_uc002fev.1_Missense_Mutation_p.T763S|CNTNAP4_uc010chb.1_Missense_Mutation_p.T826S|CNTNAP4_uc002fex.1_Missense_Mutation_p.T902S	p.T899S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			19	3080	+			899			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2695A>T		.	.	.	.	.	.	.	.	.	.	A	0.790	-0.759041	0.03019	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	4.87	3.7	0.42460	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.364900	0.20036	N	0.100605	T	0.27967	0.0689	.	.	.	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.003	B;B;B	0.21546	0.035;0.009;0.011	T	0.11372	-1.0590	9	0.22109	T	0.4	.	11.0889	0.48104	0.8176:0.0:0.0:0.1824	.	826;902;899	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	S	898;850;826;902	ENSP00000306893:T898S;ENSP00000439733:T850S;ENSP00000418741:T826S;ENSP00000417628:T902S	ENSP00000306893:T898S	T	+	1	0	CNTNAP4	75113595	0.003000	0.15002	0.490000	0.27465	0.018000	0.09664	1.017000	0.29989	2.163000	0.67991	0.533000	0.62120	ACA		PASS	0.498	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		18	76	18	76	---	---	---	---
NECAB2	54550	broad.mit.edu	37	16	84035944	84035944	+	Missense_Mutation	SNP	G	G	A	rs199676132		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr16:84035944G>A	ENST00000305202.4	+	13	1171	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	NECAB2_ENST00000565691.1_Missense_Mutation_p.R302Q	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	385						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R385Q(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						ACGGTGGGACGGGACTGACAG	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16889	0.0		0.0	False		,,,				2504	0.0					uc002fhd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1153-1155)CGG>CAG		neuronal calcium-binding protein 2		G	GLN/ARG	1,4399	2.1+/-5.4	0,1,2199	224.0	175.0	191.0		1154	2.3	0.2	16		191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NECAB2	NM_019065.2	43	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	benign	385/387	84035944	2,12998	2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84035944G>A	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.1154G>A	16.37:g.84035944G>A	ENSP00000307449:p.Arg385Gln					NECAB2_uc002fhe.2_Missense_Mutation_p.R302Q	p.R385Q	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			13	1171	+			385					A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.1154G>A	CCDS10940.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	4.794	0.147705	0.09134	2.27E-4	1.16E-4	ENSG00000103154	ENST00000305202	T	0.19394	2.15	4.38	2.27	0.28462	.	0.377509	0.26026	N	0.026794	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B	0.22080	0.064	B	0.12156	0.007	T	0.26950	-1.0088	10	0.25106	T	0.35	-29.3847	5.6151	0.17426	0.2544:0.0:0.7456:0.0	.	385	Q7Z6G3	NECA2_HUMAN	Q	385	ENSP00000307449:R385Q	ENSP00000307449:R385Q	R	+	2	0	NECAB2	82593445	0.578000	0.26717	0.186000	0.23195	0.007000	0.05969	0.651000	0.24873	1.070000	0.40811	-0.224000	0.12420	CGG		PASS	0.557	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		54	183	54	183	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C	rs587782082		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:7577536T>C	ENST00000269305.4	-	7	934	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000420246.2_Missense_Mutation_p.R249G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G	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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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)	AGGATGGGCCTCCGGTTCATG	0.567		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		95	Substitution - Missense(67)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.N247_R248delNR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.G245fs*14(1)|p.R249fs*19(1)	lung(22)|upper_aerodigestive_tract(10)|urinary_tract(9)|large_intestine(7)|breast(7)|central_nervous_system(5)|biliary_tract(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|endometrium(3)|ovary(3)|soft_tissue(2)|skin(2)|peritoneum(1)|small_intestine(1)|pancreas(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(745-747)AGG>GGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							153.0	113.0	126.0					17																	7577536		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.chr17:7577536T>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.745A>G	17.37:g.7577536T>C	ENSP00000269305:p.Arg249Gly	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.R249G|TP53_uc002gih.2_Missense_Mutation_p.R249G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117G|TP53_uc010cng.1_Missense_Mutation_p.R117G|TP53_uc002gii.1_Missense_Mutation_p.R117G|TP53_uc010cnh.1_Missense_Mutation_p.R249G|TP53_uc010cni.1_Missense_Mutation_p.R249G|TP53_uc002gij.2_Missense_Mutation_p.R249G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156G|TP53_uc002gio.2_Missense_Mutation_p.R117G	p.R249G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	939	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|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.745A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496716	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.62	-0.0234	0.13943	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.92367	3.3	0.48185	D	0.9996	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.999	D;D;D;D;D	0.81914	0.976;0.995;0.99;0.967;0.988	D	0.97987	1.0352	10	0.87932	D	0	-3.0658	12.7443	0.57273	0.0:0.0:0.4175:0.5825	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	G	249;249;249;249;249;249;238;117	ENSP00000410739:R249G;ENSP00000352610:R249G;ENSP00000269305:R249G;ENSP00000398846:R249G;ENSP00000391127:R249G;ENSP00000391478:R249G;ENSP00000425104:R117G	ENSP00000269305:R249G	R	-	1	2	TP53	7518261	0.009000	0.17119	0.995000	0.50966	0.814000	0.46013	0.039000	0.13884	-0.029000	0.13827	-0.648000	0.03929	AGG		PASS	0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	28	19	28	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10348415	10348415	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:10348415G>A	ENST00000255381.2	-	37	5454	c.5344C>T	c.(5344-5346)Cac>Tac	p.H1782Y	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1782					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.H1782Y(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGCTCCAGGTGGGCGCTGGTG	0.517																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(5344-5346)CAC>TAC		myosin, heavy polypeptide 4, skeletal muscle							127.0	126.0	126.0					17																	10348415		2203	4298	6501	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348415G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5344C>T	17.37:g.10348415G>A	ENSP00000255381:p.His1782Tyr					uc002gml.1_Intron	p.H1782Y	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			37	5455	-			1782			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.5344C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171454	0.94807	.	.	ENSG00000141048	ENST00000255381	T	0.78126	-1.15	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.39544	U	0.001333	D	0.91348	0.7271	H	0.94658	3.565	0.58432	D	0.999999	D	0.61697	0.99	D	0.65140	0.932	D	0.93090	0.6499	10	0.72032	D	0.01	.	19.744	0.96245	0.0:0.0:1.0:0.0	.	1782	Q9Y623	MYH4_HUMAN	Y	1782	ENSP00000255381:H1782Y	ENSP00000255381:H1782Y	H	-	1	0	MYH4	10289140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.778000	0.99011	2.743000	0.94032	0.591000	0.81541	CAC		PASS	0.517	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		100	91	100	91	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10426914	10426914	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:10426914T>C	ENST00000245503.5	-	37	5755	c.5371A>G	c.(5371-5373)Aac>Gac	p.N1791D	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.N1791D|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1791					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.N1791D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTCCATGTTCTTCTTCATC	0.547																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5371-5373)AAC>GAC		myosin heavy chain IIa							107.0	109.0	108.0					17																	10426914		2203	4298	6501	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426914T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5371A>G	17.37:g.10426914T>C	ENSP00000245503:p.Asn1791Asp					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.N1791D|MYH2_uc010coj.2_Intron	p.N1791D	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			37	5499	-			1791			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5371A>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565653	0.86439	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78126	-1.15;-1.15	5.46	5.46	0.80206	Myosin tail (1);	0.000000	0.42682	U	0.000666	D	0.90546	0.7037	M	0.93763	3.455	0.53688	D	0.999979	P	0.48230	0.907	D	0.64237	0.923	D	0.92667	0.6146	10	0.72032	D	0.01	.	15.7597	0.78070	0.0:0.0:0.0:1.0	.	1791	Q9UKX2	MYH2_HUMAN	D	1791	ENSP00000245503:N1791D;ENSP00000380367:N1791D	ENSP00000245503:N1791D	N	-	1	0	MYH2	10367639	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.865000	0.87049	2.305000	0.77605	0.529000	0.55759	AAC		PASS	0.547	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		69	81	69	81	---	---	---	---
TMEM99	147184	broad.mit.edu	37	17	38991086	38991086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:38991086G>A	ENST00000301665.3	+	3	622	c.318G>A	c.(316-318)tgG>tgA	p.W106*		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	106						integral component of membrane (GO:0016021)		p.W106*(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TTGGCTCGTGGTTGCTCTTCA	0.473																																						uc002hvj.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(316-318)TGG>TGA		transmembrane protein 99 precursor							155.0	152.0	153.0					17																	38991086		1930	4148	6078	SO:0001587	stop_gained	147184					integral to membrane		g.chr17:38991086G>A	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.318G>A	17.37:g.38991086G>A	ENSP00000301665:p.Trp106*						p.W106*	NM_145274	NP_660317	Q8N816	TMM99_HUMAN			3	625	+		Breast(137;0.000301)	106			Helical; (Potential).		B4DQ34|Q96BP9	Nonsense_Mutation	SNP	ENST00000301665.3	37	c.318G>A	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	G	8.555	0.876411	0.17395	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	.	.	.	0.235	-0.47	0.12131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	106	.	ENSP00000301665:W106X	W	+	3	0	TMEM99	36244612	0.010000	0.17322	0.007000	0.13788	0.007000	0.05969	-0.582000	0.05814	-0.671000	0.05274	-0.657000	0.03884	TGG		PASS	0.473	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		5	226	5	226	---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39658702	39658702	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:39658702T>G	ENST00000246635.3	-	6	1214	c.1168A>C	c.(1168-1170)Atg>Ctg	p.M390L	KRT13_ENST00000336861.3_Missense_Mutation_p.M390L|KRT13_ENST00000587544.1_Missense_Mutation_p.M390L|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	390	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.M390L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCCAGCAGCATCTTGTACTCT	0.602																																						uc002hwu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1168-1170)ATG>CTG		keratin 13 isoform a							201.0	168.0	179.0					17																	39658702		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658702T>G		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1168A>C	17.37:g.39658702T>G	ENSP00000246635:p.Met390Leu					KRT13_uc002hwv.1_Missense_Mutation_p.M390L|KRT13_uc002hww.2_Missense_Mutation_p.M283L|KRT13_uc010wfr.1_Missense_Mutation_p.M283L|KRT13_uc010cxo.2_Missense_Mutation_p.M390L|KRT13_uc002hwx.1_Missense_Mutation_p.M378L	p.M390L	NM_153490	NP_705694	P13646	K1C13_HUMAN			6	1231	-		Breast(137;0.000286)	390			Rod.|Coil 2.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.1168A>C	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208406	0.39003	.	.	ENSG00000171401	ENST00000246635;ENST00000336861	D;D	0.88277	-2.36;-2.36	4.45	2.15	0.27550	Filament (1);	0.460992	0.19644	N	0.109367	T	0.81767	0.4892	L	0.47016	1.485	0.28224	N	0.926419	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.003;0.006	T	0.71764	-0.4494	10	0.56958	D	0.05	.	2.8725	0.05621	0.1367:0.0791:0.1652:0.619	.	390;390;390	A1A4E9;P13646-3;P13646	.;.;K1C13_HUMAN	L	390	ENSP00000246635:M390L;ENSP00000336604:M390L	ENSP00000246635:M390L	M	-	1	0	KRT13	36912228	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	1.784000	0.38674	0.300000	0.22699	0.391000	0.25812	ATG		PASS	0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		21	361	21	361	---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39658791	39658791	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:39658791A>C	ENST00000246635.3	-	6	1125	c.1079T>G	c.(1078-1080)cTg>cGg	p.L360R	KRT13_ENST00000336861.3_Missense_Mutation_p.L360R|KRT13_ENST00000587544.1_Missense_Mutation_p.L360R|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	360	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.L360R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GATCTGCTGCAGCTGCAGGGC	0.602																																						uc002hwu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1078-1080)CTG>CGG		keratin 13 isoform a							130.0	110.0	117.0					17																	39658791		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658791A>C		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1079T>G	17.37:g.39658791A>C	ENSP00000246635:p.Leu360Arg					KRT13_uc002hwv.1_Missense_Mutation_p.L360R|KRT13_uc002hww.2_Missense_Mutation_p.L253R|KRT13_uc010wfr.1_Missense_Mutation_p.L253R|KRT13_uc010cxo.2_Missense_Mutation_p.L360R|KRT13_uc002hwx.1_Missense_Mutation_p.L348R	p.L360R	NM_153490	NP_705694	P13646	K1C13_HUMAN			6	1142	-		Breast(137;0.000286)	360			Rod.|Coil 2.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.1079T>G	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461878	0.84425	.	.	ENSG00000171401	ENST00000246635;ENST00000336861	D;D	0.90069	-2.61;-2.61	4.45	4.45	0.53987	Filament (1);	0.000000	0.36932	N	0.002329	D	0.94928	0.8360	M	0.88570	2.965	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95795	0.8828	10	0.87932	D	0	.	14.1656	0.65475	1.0:0.0:0.0:0.0	.	360;360;360	A1A4E9;P13646-3;P13646	.;.;K1C13_HUMAN	R	360	ENSP00000246635:L360R;ENSP00000336604:L360R	ENSP00000246635:L360R	L	-	2	0	KRT13	36912317	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.087000	0.94110	1.991000	0.58162	0.391000	0.25812	CTG		PASS	0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		9	245	9	245	---	---	---	---
KRT16	3868	broad.mit.edu	37	17	39767629	39767629	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:39767629C>G	ENST00000301653.4	-	3	803	c.739G>C	c.(739-741)Gag>Cag	p.E247Q		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	247	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.E247Q(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TAGGCCAGCTCCTCCTTCAGG	0.642																																						uc002hxg.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(739-741)GAG>CAG		keratin 16							78.0	77.0	77.0					17																	39767629		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767629C>G	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.739G>C	17.37:g.39767629C>G	ENSP00000301653:p.Glu247Gln					JUP_uc010wfs.1_Intron	p.E247Q	NM_005557	NP_005548	P08779	K1C16_HUMAN			3	878	-		Breast(137;0.000307)	247			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.739G>C	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808450	0.90707	.	.	ENSG00000186832	ENST00000301653	D	0.92911	-3.13	4.63	4.63	0.57726	Filament (1);	0.000000	0.51477	D	0.000085	D	0.97148	0.9068	H	0.94964	3.605	0.58432	D	0.999999	P	0.45986	0.87	D	0.63877	0.919	D	0.98160	1.0446	10	0.87932	D	0	.	18.0402	0.89317	0.0:1.0:0.0:0.0	.	247	P08779	K1C16_HUMAN	Q	247	ENSP00000301653:E247Q	ENSP00000301653:E247Q	E	-	1	0	KRT16	37021155	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.609000	0.82925	2.556000	0.86216	0.561000	0.74099	GAG		PASS	0.642	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		43	60	43	60	---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42230141	42230141	+	Missense_Mutation	SNP	G	G	T	rs372363245		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:42230141G>T	ENST00000319977.4	+	5	1682	c.1445G>T	c.(1444-1446)cGc>cTc	p.R482L	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Missense_Mutation_p.R482L	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	482								p.R482L(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATGGTGCTGCGCAAGGTAAGG	0.542																																						uc002ifi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1444-1446)CGC>CTC		hypothetical protein LOC78995							118.0	105.0	109.0					17																	42230141		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42230141G>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1445G>T	17.37:g.42230141G>T	ENSP00000313500:p.Arg482Leu					C17orf53_uc010czq.1_Missense_Mutation_p.R482L|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	p.R482L	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	1630	+		Breast(137;0.0364)|Prostate(33;0.0376)	482					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.1445G>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073356	0.94000	.	.	ENSG00000125319	ENST00000319977	T	0.57107	0.42	5.76	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.74648	-0.3595	10	0.66056	D	0.02	-19.0484	13.5699	0.61841	0.0753:0.0:0.9247:0.0	.	482;482	A8K7A9;Q8N3J3	.;CQ053_HUMAN	L	482	ENSP00000313500:R482L	ENSP00000313500:R482L	R	+	2	0	C17orf53	39585667	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	7.635000	0.83286	1.470000	0.48102	0.555000	0.69702	CGC		PASS	0.542	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		41	78	41	78	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46607865	46607865	+	Silent	SNP	C	C	A	rs141645068		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:46607865C>A	ENST00000239174.6	-	1	494	c.402G>T	c.(400-402)ccG>ccT	p.P134P	HOXB1_ENST00000577092.1_Silent_p.P134P	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	134					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.P134P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATATGGCCCCGGACCGGCTC	0.612																																						uc002ink.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(400-402)CCG>CCT		homeobox B1							55.0	59.0	58.0					17																	46607865		2203	4300	6503	SO:0001819	synonymous_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607865C>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.402G>T	17.37:g.46607865C>A							p.P134P	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	408	-			134					Q4VB03	Silent	SNP	ENST00000239174.6	37	c.402G>T	CCDS32675.1																																																																																				PASS	0.612	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			3	63	3	63	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48271336	48271336	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:48271336C>T	ENST00000225964.5	-	25	1853	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	579	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.V579M(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	AATCCCATCACACCAGCCTGA	0.597			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(1735-1737)GTG>ATG		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						55.0	58.0	57.0					17																	48271336		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48271336C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1735G>A	17.37:g.48271336C>T	ENSP00000225964:p.Val579Met						p.V579M	NM_000088	NP_000079	P02452	CO1A1_HUMAN			25	1861	-			579			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.1735G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833992	0.71373	.	.	ENSG00000108821	ENST00000225964	D	0.94931	-3.56	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000002	D	0.94311	0.8172	N	0.20845	0.615	0.80722	D	1	D	0.65815	0.995	D	0.79784	0.993	D	0.94476	0.7689	10	0.44086	T	0.13	.	15.9855	0.80147	0.0:1.0:0.0:0.0	.	579	P02452	CO1A1_HUMAN	M	579	ENSP00000225964:V579M	ENSP00000225964:V579M	V	-	1	0	COL1A1	45626335	0.962000	0.33011	1.000000	0.80357	0.991000	0.79684	2.022000	0.41030	2.309000	0.77851	0.655000	0.94253	GTG		PASS	0.597	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			37	50	37	50	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917584	48917584	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:48917584C>T	ENST00000311378.4	+	2	1463	c.935C>T	c.(934-936)gCc>gTc	p.A312V	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A219V|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	312					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A312V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGGCTGCAGCCACCTCAGAG	0.662																																						uc002isv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(934-936)GCC>GTC		WFIKKN2 protein							51.0	45.0	47.0					17																	48917584		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917584C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.935C>T	17.37:g.48917584C>T	ENSP00000311184:p.Ala312Val					WFIKKN2_uc010dbu.2_Missense_Mutation_p.A219V	p.A312V	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1629	+			312					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.935C>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	4.142	0.024624	0.08054	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.81659	-1.52;-1.52	5.44	2.31	0.28768	.	0.821412	0.11236	N	0.585084	T	0.70692	0.3253	L	0.39898	1.24	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.56347	-0.7994	10	0.30078	T	0.28	.	8.12	0.30965	0.0:0.7252:0.1317:0.1431	.	312	Q8TEU8	WFKN2_HUMAN	V	219;312	ENSP00000405889:A219V;ENSP00000311184:A312V	ENSP00000311184:A312V	A	+	2	0	WFIKKN2	46272583	0.040000	0.19996	0.040000	0.18447	0.121000	0.20230	1.297000	0.33400	0.633000	0.30452	-0.141000	0.14075	GCC		PASS	0.662	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		29	21	29	21	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901916	51901916	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:51901916A>G	ENST00000268919.4	+	1	1678	c.1522A>G	c.(1522-1524)Ata>Gta	p.I508V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	508	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I508V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGACTCCTTTATAGGCCAGAA	0.473																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1522-1524)ATA>GTA		kinesin family member 2B							57.0	55.0	56.0					17																	51901916		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901916A>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1522A>G	17.37:g.51901916A>G	ENSP00000268919:p.Ile508Val					uc010wna.1_RNA	p.I508V	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1678	+			508					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1522A>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719729	0.68844	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74526	-0.85	5.51	5.51	0.81932	Kinesin, motor domain (4);	0.000000	0.49305	D	0.000146	T	0.63034	0.2477	N	0.10972	0.075	0.44619	D	0.997599	P	0.37500	0.597	P	0.44647	0.456	T	0.64214	-0.6460	10	0.30854	T	0.27	.	13.2917	0.60274	1.0:0.0:0.0:0.0	.	508	Q8N4N8	KIF2B_HUMAN	V	508;396	ENSP00000268919:I508V	ENSP00000268919:I508V	I	+	1	0	KIF2B	49256915	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	9.231000	0.95317	2.210000	0.71456	0.533000	0.62120	ATA		PASS	0.473	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		26	49	26	49	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57134397	57134397	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:57134397C>G	ENST00000262294.7	-	13	1297	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	TRIM37_ENST00000393065.2_Missense_Mutation_p.E312D|RN7SL716P_ENST00000580539.1_RNA|TRIM37_ENST00000393066.3_Missense_Mutation_p.E346D|TRIM37_ENST00000376149.3_Missense_Mutation_p.E224D	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	346	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E346D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGAACCATCTCTACACGAT	0.318									Mulibrey Nanism																													uc002iwy.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(1036-1038)GAG>GAC		tripartite motif-containing 37 protein							76.0	73.0	74.0					17																	57134397		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57134397C>G	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1038G>C	17.37:g.57134397C>G	ENSP00000262294:p.Glu346Asp					TRIM37_uc002iwz.3_Missense_Mutation_p.E346D|TRIM37_uc002ixa.3_Missense_Mutation_p.E224D|TRIM37_uc010woc.1_Missense_Mutation_p.E312D	p.E346D	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			13	1482	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		346			MATH.		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1038G>C	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544191	0.65198	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.43	1.22	0.21188	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	L	0.58428	1.81	0.46521	D	0.99908	D;D;P	0.89917	1.0;0.996;0.898	D;D;P	0.76071	0.982;0.987;0.874	T	0.50303	-0.8844	10	0.59425	D	0.04	-28.8819	8.9908	0.36022	0.0:0.5406:0.0:0.4594	.	312;224;346	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	D	346;346;224;312	ENSP00000376785:E346D;ENSP00000262294:E346D;ENSP00000365319:E224D;ENSP00000376784:E312D	ENSP00000262294:E346D	E	-	3	2	TRIM37	54489179	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.347000	0.33975	0.013000	0.14918	0.591000	0.81541	GAG		PASS	0.318	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		23	84	23	84	---	---	---	---
TRIM65	201292	broad.mit.edu	37	17	73888574	73888574	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:73888574G>T	ENST00000269383.3	-	3	583	c.518C>A	c.(517-519)gCc>gAc	p.A173D		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	173						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A173D(2)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAAGATGCAGGCCGAGTTCTG	0.647																																						uc002jpx.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(517-519)GCC>GAC		tripartite motif-containing 65							29.0	32.0	31.0					17																	73888574		2202	4299	6501	SO:0001583	missense	201292					intracellular	zinc ion binding	g.chr17:73888574G>T	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.518C>A	17.37:g.73888574G>T	ENSP00000269383:p.Ala173Asp						p.A173D	NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		3	554	-			173			Potential.		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	c.518C>A	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.860568|1.860568	0.32884|0.32884	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000269383|ENST00000543309	T|.	0.61040|.	0.14|.	4.13|4.13	3.16|3.16	0.36331|0.36331	.|.	0.000000|.	0.46145|.	D|.	0.000301|.	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	T|T	0.21655|0.21655	-1.0239|-1.0239	10|5	0.87932|.	D|.	0|.	.|.	9.6999|9.6999	0.40180|0.40180	0.1032:0.0:0.8968:0.0|0.1032:0.0:0.8968:0.0	.|.	173|.	Q6PJ69|.	TRI65_HUMAN|.	D|T	173|47	ENSP00000269383:A173D|.	ENSP00000269383:A173D|.	A|P	-|-	2|1	0|0	TRIM65|TRIM65	71400169|71400169	0.016000|0.016000	0.18221|0.18221	0.752000|0.752000	0.31206|0.31206	0.065000|0.065000	0.16274|0.16274	1.007000|1.007000	0.29860|0.29860	0.961000|0.961000	0.38030|0.38030	0.462000|0.462000	0.41574|0.41574	GCC|CCT		PASS	0.647	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		7	61	7	61	---	---	---	---
SOCS3	9021	broad.mit.edu	37	17	76354708	76354708	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr17:76354708G>A	ENST00000330871.2	-	2	884	c.469C>T	c.(469-471)Cct>Tct	p.P157S	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	157					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)	p.P157S(1)		kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GGACTCCCAGGGAGTGGCTGG	0.662																																						uc002jvl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)CCT>TCT		suppressor of cytokine signaling 3							20.0	24.0	23.0					17																	76354708		2188	4279	6467	SO:0001583	missense	9021				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	g.chr17:76354708G>A	AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.469C>T	17.37:g.76354708G>A	ENSP00000330341:p.Pro157Ser						p.P157S	NM_003955	NP_003946	O14543	SOCS3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)		2	885	-			157					O14509	Missense_Mutation	SNP	ENST00000330871.2	37	c.469C>T	CCDS11756.1	.	.	.	.	.	.	.	.	.	.	G	1.868	-0.461072	0.04508	.	.	ENSG00000184557	ENST00000330871	T	0.41758	0.99	3.57	0.144	0.14824	SH2 motif (1);	1.662640	0.03535	N	0.222925	T	0.20941	0.0504	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12656	-1.0539	10	0.11794	T	0.64	-2.5721	3.3197	0.07045	0.2425:0.0:0.5547:0.2028	.	157	O14543	SOCS3_HUMAN	S	157	ENSP00000330341:P157S	ENSP00000330341:P157S	P	-	1	0	SOCS3	73866303	0.025000	0.19082	0.004000	0.12327	0.598000	0.36846	0.638000	0.24674	0.194000	0.20326	0.462000	0.41574	CCT		PASS	0.662	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			26	35	26	35	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9553390	9553390	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:9553390G>C	ENST00000400556.3	-	16	2294	c.2221C>G	c.(2221-2223)Ctt>Gtt	p.L741V	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L724V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	741					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.L741V(1)		large_intestine(1)|skin(2)	3						AGTTGATAAAGATATTCTCTT	0.318																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2221-2223)CTT>GTT		protein phosphatase 4, regulatory subunit 1							68.0	62.0	64.0					18																	9553390		1799	4072	5871	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9553390G>C	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2221C>G	18.37:g.9553390G>C	ENSP00000383402:p.Leu741Val					PPP4R1_uc002kof.2_Missense_Mutation_p.L158V|PPP4R1_uc010wzo.1_Missense_Mutation_p.L587V|PPP4R1_uc002kod.1_Missense_Mutation_p.L724V	p.L741V	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			16	2339	-			741					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.2221C>G	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752906	0.89753	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.35048	1.33;1.33	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.083544	0.52532	D	0.000063	T	0.64148	0.2572	M	0.80183	2.485	0.80722	D	1	D;D;P	0.89917	1.0;0.993;0.952	D;D;P	0.77557	0.99;0.957;0.857	T	0.65689	-0.6107	9	.	.	.	-16.1978	19.1356	0.93426	0.0:0.0:1.0:0.0	.	724;741;724	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	V	741;724	ENSP00000383402:L741V;ENSP00000383401:L724V	.	L	-	1	0	PPP4R1	9543390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.121000	0.94375	2.527000	0.85204	0.655000	0.94253	CTT		PASS	0.318	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		24	57	24	57	---	---	---	---
HRH4	59340	broad.mit.edu	37	18	22048908	22048908	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:22048908C>G	ENST00000256906.4	+	2	450	c.350C>G	c.(349-351)tCa>tGa	p.S117*	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	117					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.S117*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CTGTCAGTCTCAAATGCTGTA	0.343																																						uc002kvi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(349-351)TCA>TGA		histamine H4 receptor isoform 1	Clozapine(DB00363)						127.0	107.0	114.0					18																	22048908		2203	4300	6503	SO:0001587	stop_gained	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22048908C>G	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.350C>G	18.37:g.22048908C>G	ENSP00000256906:p.Ser117*					HRH4_uc010xbd.1_Intron|HRH4_uc010dlx.2_Intron	p.S117*	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			2	450	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		117			Cytoplasmic (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Nonsense_Mutation	SNP	ENST00000256906.4	37	c.350C>G	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804498	0.96967	.	.	ENSG00000134489	ENST00000256906	.	.	.	5.63	2.68	0.31781	.	0.322202	0.25726	N	0.028705	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.0043	9.9004	0.41344	0.0:0.7287:0.1263:0.1449	.	.	.	.	X	117	.	ENSP00000256906:S117X	S	+	2	0	HRH4	20302906	0.992000	0.36948	0.961000	0.40146	0.929000	0.56500	2.972000	0.49256	0.732000	0.32470	0.655000	0.94253	TCA		PASS	0.343	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			73	78	73	78	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22804463	22804463	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:22804463C>A	ENST00000361524.3	-	4	3567	c.3419G>T	c.(3418-3420)tGc>tTc	p.C1140F	ZNF521_ENST00000538137.2_Missense_Mutation_p.C1140F|ZNF521_ENST00000584787.1_Missense_Mutation_p.C920F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1140					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.C1140F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCAGCTAGAGCAGCGTGTCTT	0.532			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(3418-3420)TGC>TTC		zinc finger protein 521							161.0	138.0	146.0					18																	22804463		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804463C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3419G>T	18.37:g.22804463C>A	ENSP00000354794:p.Cys1140Phe					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.C1140F|ZNF521_uc002kvl.2_Missense_Mutation_p.C920F	p.C1140F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3666	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1140			C2H2-type 26.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3419G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587485	0.28268	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.25085	1.98;1.82	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	L	0.59436	1.845	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.45556	-0.9253	10	0.87932	D	0	-23.81	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1140	Q96K83	ZN521_HUMAN	F	1140;1174;1140	ENSP00000354794:C1140F;ENSP00000382352:C1140F	ENSP00000354794:C1140F	C	-	2	0	ZNF521	21058461	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.482000	0.81143	2.835000	0.97688	0.650000	0.86243	TGC		PASS	0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		35	125	35	125	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25593741	25593741	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:25593741A>G	ENST00000269141.3	-	3	728	c.305T>C	c.(304-306)tTc>tCc	p.F102S	CDH2_ENST00000399380.3_Missense_Mutation_p.F71S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	102					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.F102S(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATATATCAGGAACTTGGCATG	0.463																																						uc002kwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(304-306)TTC>TCC		cadherin 2, type 1 preproprotein							182.0	170.0	174.0					18																	25593741		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25593741A>G	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.305T>C	18.37:g.25593741A>G	ENSP00000269141:p.Phe102Ser					CDH2_uc010xbn.1_Missense_Mutation_p.F71S	p.F102S	NM_001792	NP_001783	P19022	CADH2_HUMAN			3	764	-			102					A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.305T>C	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721769	0.68959	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882;ENST00000413878	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.55	5.55	0.83447	Cadherin prodomain-like (1);Cadherin-like (1);	0.052264	0.85682	D	0.000000	T	0.75250	0.3824	M	0.62088	1.915	0.54753	D	0.99998	D;P	0.53885	0.963;0.642	P;B	0.62184	0.899;0.339	T	0.78119	-0.2328	10	0.87932	D	0	.	15.6843	0.77396	1.0:0.0:0.0:0.0	.	71;102	A8MWK3;P19022	.;CADH2_HUMAN	S	102;71;51;17;17	ENSP00000269141:F102S;ENSP00000382312:F71S;ENSP00000411360:F51S;ENSP00000412120:F17S;ENSP00000414269:F17S	ENSP00000269141:F102S	F	-	2	0	CDH2	23847739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.538000	0.82048	2.114000	0.64651	0.477000	0.44152	TTC		PASS	0.463	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		59	373	59	373	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28713956	28713956	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:28713956C>G	ENST00000257198.5	-	13	2275	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.E672Q	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	672	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E672Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTCTACACTCAGATGGAGTT	0.353																																						uc002kwn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(2014-2016)GAG>CAG		desmocollin 1 isoform Dsc1a preproprotein							181.0	164.0	169.0					18																	28713956		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28713956C>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2014G>C	18.37:g.28713956C>G	ENSP00000257198:p.Glu672Gln					DSC1_uc002kwm.2_Missense_Mutation_p.E672Q	p.E672Q	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		13	2276	-			672			Extracellular (Potential).|Cadherin 5.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2014G>C	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	6.788	0.514466	0.12944	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.56275	0.49;0.47	5.92	5.92	0.95590	Cadherin (2);	0.558998	0.15674	N	0.250227	T	0.43656	0.1257	L	0.33339	1.005	0.27101	N	0.962614	P;P	0.39665	0.682;0.546	B;B	0.38985	0.287;0.177	T	0.36625	-0.9740	10	0.28530	T	0.3	.	13.1695	0.59589	0.0:0.9265:0.0:0.0735	.	672;672	Q08554;Q9HB00	DSC1_HUMAN;.	Q	672	ENSP00000257197:E672Q;ENSP00000257198:E672Q	ENSP00000257197:E672Q	E	-	1	0	DSC1	26967954	0.979000	0.34478	0.472000	0.27241	0.100000	0.18952	2.943000	0.49026	2.813000	0.96785	0.591000	0.81541	GAG		PASS	0.353	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		146	198	146	198	---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33272176	33272176	+	Silent	SNP	G	G	A	rs370655972		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:33272176G>A	ENST00000269195.5	+	8	1294	c.1191G>A	c.(1189-1191)tcG>tcA	p.S397S	GALNT1_ENST00000537549.1_Silent_p.S337S	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	397					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S397S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GAGATATATCGTCAAGAGTTG	0.318																																						uc010dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1189-1191)TCG>TCA		polypeptide N-acetylgalactosaminyltransferase 1		G		0,4406		0,0,2203	147.0	152.0	150.0		1191	1.8	1.0	18		150	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	GALNT1	NM_020474.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		397/560	33272176	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33272176G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1191G>A	18.37:g.33272176G>A						GALNT1_uc002kyz.3_Silent_p.S337S|GALNT1_uc002kzb.2_Silent_p.S397S	p.S397S	NM_020474	NP_065207	Q10472	GALT1_HUMAN			9	1244	+			397			Lumenal (Potential).		Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.1191G>A	CCDS11915.1																																																																																				PASS	0.318	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		48	358	48	358	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43438727	43438727	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:43438727C>A	ENST00000282041.5	-	41	7064	c.7030G>T	c.(7030-7032)Gga>Tga	p.G2344*	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2344					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.G2344*(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGTCCCCATCCTGAATTCTGA	0.443																																						uc002lbm.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(7030-7032)GGA>TGA		hypothetical protein LOC57724							57.0	54.0	55.0					18																	43438727		1863	4111	5974	SO:0001587	stop_gained	57724				autophagy			g.chr18:43438727C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7030G>T	18.37:g.43438727C>A	ENSP00000282041:p.Gly2344*					KIAA1632_uc010xcq.1_Nonsense_Mutation_p.G898*|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Nonsense_Mutation_p.G1219*	p.G2344*	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			41	7130	-			2344					A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	ENST00000282041.5	37	c.7030G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	49	15.231795	0.99827	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.236	20.3207	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	2344;272;1219	.	ENSP00000282041:G2344X	G	-	1	0	EPG5	41692725	1.000000	0.71417	0.978000	0.43139	0.948000	0.59901	4.625000	0.61262	2.813000	0.96785	0.561000	0.74099	GGA		PASS	0.443	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		46	110	46	110	---	---	---	---
STARD6	147323	broad.mit.edu	37	18	51851222	51851222	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:51851222A>G	ENST00000581310.1	-	9	876	c.503T>C	c.(502-504)gTg>gCg	p.V168A	STARD6_ENST00000580990.2_Missense_Mutation_p.V44A|STARD6_ENST00000307844.3_Missense_Mutation_p.V168A			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	168	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.V168A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GACAAACATCACTAGTTTGGA	0.333																																						uc010xdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(502-504)GTG>GCG		START domain containing protein 6							109.0	106.0	107.0					18																	51851222		2201	4300	6501	SO:0001583	missense	147323				lipid transport		lipid binding	g.chr18:51851222A>G	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.503T>C	18.37:g.51851222A>G	ENSP00000462349:p.Val168Ala						p.V168A	NM_139171	NP_631910	P59095	STAR6_HUMAN		Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)	6	503	-			168			START.			Missense_Mutation	SNP	ENST00000581310.1	37	c.503T>C	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726528	0.30593	.	.	ENSG00000174448	ENST00000307844	T	0.44083	0.93	5.53	4.35	0.52113	Lipid-binding START (3);START-like domain (1);	0.095256	0.43747	D	0.000529	T	0.46795	0.1411	M	0.77820	2.39	0.36715	D	0.880873	P	0.51240	0.943	P	0.46362	0.514	T	0.55360	-0.8153	10	0.34782	T	0.22	.	8.8833	0.35387	0.834:0.0:0.0:0.166	.	168	P59095	STAR6_HUMAN	A	168	ENSP00000310814:V168A	ENSP00000310814:V168A	V	-	2	0	STARD6	50105220	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.371000	0.52379	0.904000	0.36572	0.338000	0.21704	GTG		PASS	0.333	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		37	101	37	101	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55020104	55020104	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:55020104C>A	ENST00000324000.3	+	1	2061	c.27C>A	c.(25-27)gtC>gtA	p.V9V		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	9					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.V9V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGGCCCGGGTCGCCAGTGTGC	0.582																																						uc002lgn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(25-27)GTC>GTA		ST8 alpha-N-acetyl-neuraminide							51.0	51.0	51.0					18																	55020104		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55020104C>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.27C>A	18.37:g.55020104C>A							p.V9V	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	1	384	+			9			Cytoplasmic (Potential).		A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.27C>A	CCDS32834.1																																																																																				PASS	0.582	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		20	45	20	45	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56274632	56274632	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:56274632T>G	ENST00000361673.3	-	3	362	c.149A>C	c.(148-150)cAg>cCg	p.Q50P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	50	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q50P(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						ATCGATGGCCTGACCATTCTT	0.363																																						uc002lhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(148-150)CAG>CCG		heart alpha-kinase							81.0	78.0	79.0					18																	56274632		1890	4117	6007	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274632T>G	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.149A>C	18.37:g.56274632T>G	ENSP00000354991:p.Gln50Pro						p.Q50P	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			3	363	-			50			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.149A>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336496	0.41398	.	.	ENSG00000198796	ENST00000361673	T	0.69175	-0.38	5.9	3.5	0.40072	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72203	0.3431	M	0.76727	2.345	0.31637	N	0.64826	D	0.54964	0.969	P	0.52454	0.699	T	0.73987	-0.3809	9	0.56958	D	0.05	-0.9572	7.9865	0.30216	0.0:0.1694:0.0:0.8306	.	50	Q86TB3	ALPK2_HUMAN	P	50	ENSP00000354991:Q50P	ENSP00000354991:Q50P	Q	-	2	0	ALPK2	54425612	0.967000	0.33354	0.996000	0.52242	0.473000	0.32948	0.387000	0.20718	0.479000	0.27511	0.482000	0.46254	CAG		PASS	0.363	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		40	107	40	107	---	---	---	---
PIGN	23556	broad.mit.edu	37	18	59768385	59768385	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:59768385A>G	ENST00000357637.5	-	22	2415	c.2000T>C	c.(1999-2001)gTg>gCg	p.V667A	PIGN_ENST00000400334.3_Missense_Mutation_p.V667A	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	667					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.V667A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				AGTGCTATACACAACATACAT	0.408																																						uc002lii.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(1999-2001)GTG>GCG		phosphatidylinositol glycan anchor biosynthesis,							97.0	87.0	90.0					18																	59768385		1894	4128	6022	SO:0001583	missense	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59768385A>G	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2000T>C	18.37:g.59768385A>G	ENSP00000350263:p.Val667Ala					PIGN_uc002lij.3_Missense_Mutation_p.V667A	p.V667A	NM_176787	NP_789744	O95427	PIGN_HUMAN			23	2448	-		Colorectal(73;0.187)	667			Helical; (Potential).		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	c.2000T>C	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750282	0.49257	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.58797	0.31;0.31	5.57	5.57	0.84162	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.310896	0.31221	N	0.008023	T	0.53610	0.1807	L	0.54323	1.7	0.45962	D	0.99878	B;B	0.18610	0.029;0.029	B;B	0.22601	0.04;0.04	T	0.49495	-0.8934	10	0.19590	T	0.45	-15.7258	15.7197	0.77697	1.0:0.0:0.0:0.0	.	667;667	B2RCI8;O95427	.;PIGN_HUMAN	A	667	ENSP00000350263:V667A;ENSP00000383188:V667A	ENSP00000350263:V667A	V	-	2	0	PIGN	57919365	0.982000	0.34865	0.876000	0.34364	0.986000	0.74619	2.939000	0.48995	2.106000	0.64143	0.477000	0.44152	GTG		PASS	0.408	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		34	99	34	99	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74620347	74620347	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr18:74620347A>T	ENST00000253159.8	+	14	2561	c.2363A>T	c.(2362-2364)cAg>cTg	p.Q788L	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q790L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	788					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q788L(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTAGACCAGCAGAGCATGCAG	0.562																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2362-2364)CAG>CTG		zinc finger protein 236							96.0	105.0	102.0					18																	74620347		2098	4217	6315	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620347A>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2363A>T	18.37:g.74620347A>T	ENSP00000253159:p.Gln788Leu					ZNF236_uc002lmj.2_RNA	p.Q788L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2561	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	788					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2363A>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115379	0.56505	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.13089	2.62;2.8	5.23	4.05	0.47172	.	0.286226	0.34460	N	0.003951	T	0.18964	0.0455	M	0.62723	1.935	0.37497	D	0.916592	P	0.38922	0.651	B	0.40901	0.343	T	0.06481	-1.0824	10	0.72032	D	0.01	.	12.4272	0.55553	0.8593:0.1407:0.0:0.0	.	788	Q9UL36	ZN236_HUMAN	L	788	ENSP00000253159:Q788L;ENSP00000444524:Q788L	ENSP00000253159:Q788L	Q	+	2	0	ZNF236	72749335	1.000000	0.71417	0.842000	0.33263	0.414000	0.31173	3.857000	0.55972	0.906000	0.36621	0.460000	0.39030	CAG		PASS	0.562	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			72	122	72	122	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8999556	8999556	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:8999556T>A	ENST00000397910.4	-	56	40822	c.40619A>T	c.(40618-40620)aAg>aTg	p.K13540M	MUC16_ENST00000380951.5_Missense_Mutation_p.K181M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13542	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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.K225M(1)|p.K13540M(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						TGCCCCATCCTTCTTGGGCCT	0.602																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40618-40620)AAG>ATG		mucin 16							70.0	61.0	64.0					19																	8999556		1924	4121	6045	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999556T>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.40619A>T	19.37:g.8999556T>A	ENSP00000381008:p.Lys13540Met					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K357M|MUC16_uc010xki.1_RNA	p.K13540M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			56	40823	-			13542	Missing (in Ref. 3; AAK74120).		SEA 10.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40619A>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.46|12.46	1.943838|1.943838	0.34283|0.34283	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.46451|.	0.87;0.87|.	3.48|3.48	1.13|1.13	0.20643|0.20643	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.61375|0.61375	0.2342|0.2342	M|M	0.87827|0.87827	2.91|2.91	.|.	.|.	.|.	P;D|.	0.69078|.	0.649;0.997|.	B;D|.	0.83275|.	0.222;0.996|.	T|T	0.64659|0.64659	-0.6355|-0.6355	8|4	0.87932|.	D|.	0|.	-7.3549|-7.3549	2.5277|2.5277	0.04695|0.04695	0.2325:0.1341:0.0:0.6334|0.2325:0.1341:0.0:0.6334	.|.	21185;13540|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	M|W	13540;181|380	ENSP00000381008:K13540M;ENSP00000370338:K181M|.	ENSP00000370338:K181M|.	K|R	-|-	2|1	0|2	MUC16|MUC16	8860556|8860556	0.005000|0.005000	0.15991|0.15991	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	0.151000|0.151000	0.16283|0.16283	0.535000|0.535000	0.28714|0.28714	-0.388000|-0.388000	0.06559|0.06559	AAG|AGG		PASS	0.602	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		37	28	37	28	---	---	---	---
MVB12A	93343	broad.mit.edu	37	19	17531190	17531190	+	Silent	SNP	C	C	T	rs142361127		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:17531190C>T	ENST00000317040.7	+	2	1214	c.159C>T	c.(157-159)ttC>ttT	p.F53F	MVB12A_ENST00000528515.1_Silent_p.F53F|MVB12A_ENST00000392702.2_Silent_p.F53F|MVB12A_ENST00000529939.1_Silent_p.F53F|MVB12A_ENST00000543795.1_Silent_p.F53F|CTD-2521M24.8_ENST00000597028.1_RNA|CTD-2521M24.6_ENST00000593957.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	53	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)	p.F53F(1)									CTGGCTACTTCCTGTGCCTTA	0.637																																						uc002ngo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)TTC>TTT		family with sequence similarity 125, member A							74.0	77.0	76.0					19																	17531190		2203	4300	6503	SO:0001819	synonymous_variant	93343				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding	g.chr19:17531190C>T	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.159C>T	19.37:g.17531190C>T						FAM125A_uc002ngn.1_Silent_p.F53F|FAM125A_uc002ngp.1_5'UTR|FAM125A_uc002ngq.1_5'Flank	p.F53F	NM_138401	NP_612410	Q96EY5	F125A_HUMAN			2	192	+			53			MABP.		Q96I18	Silent	SNP	ENST00000317040.7	37	c.159C>T	CCDS12359.1																																																																																				PASS	0.637	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		31	27	31	27	---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18279951	18279951	+	Silent	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:18279951C>G	ENST00000593731.1	+	16	2594	c.2034C>G	c.(2032-2034)ggC>ggG	p.G678G	PIK3R2_ENST00000222254.8_Silent_p.G678G			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	678	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.G678G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CCGGCTTCGGCTTCGCGGAGC	0.677																																						uc002nia.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(2032-2034)GGC>GGG		phosphoinositide-3-kinase, regulatory subunit 2							35.0	34.0	34.0					19																	18279951		2201	4292	6493	SO:0001819	synonymous_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18279951C>G		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.2034C>G	19.37:g.18279951C>G						PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.G678G	NM_005027	NP_005018	O00459	P85B_HUMAN			16	2546	+			678			SH2 2.		Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	c.2034C>G	CCDS12371.1																																																																																				PASS	0.677	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		17	12	17	12	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18779381	18779381	+	Missense_Mutation	SNP	C	C	T	rs200052311	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:18779381C>T	ENST00000300976.4	+	3	1264	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	392								p.R392C(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCACCTGAATCGCTGGCTGCG	0.677													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16555	0.0		0.0	False		,,,				2504	0.0					uc002njz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1174-1176)CGC>TGC		kelch-like 26							10.0	11.0	11.0					19																	18779381		2069	4075	6144	SO:0001583	missense	55295							g.chr19:18779381C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1174C>T	19.37:g.18779381C>T	ENSP00000300976:p.Arg392Cys						p.R392C	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	1201	+			392			Kelch 2.		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.1174C>T	CCDS12384.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.47	2.544680	0.45280	.	.	ENSG00000167487	ENST00000300976	T	0.78126	-1.15	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.349685	0.29417	N	0.012202	T	0.73528	0.3598	L	0.50333	1.59	0.53688	D	0.999978	B	0.22800	0.075	B	0.21546	0.035	T	0.68580	-0.5371	9	.	.	.	.	17.5721	0.87937	0.0:1.0:0.0:0.0	.	392	Q53HC5	KLH26_HUMAN	C	392	ENSP00000300976:R392C	.	R	+	1	0	KLHL26	18640381	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.791000	0.47829	2.389000	0.81357	0.655000	0.94253	CGC		PASS	0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		7	1	7	1	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19115332	19115332	+	Silent	SNP	C	C	A	rs200101958		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:19115332C>A	ENST00000601879.1	-	7	2871	c.2574G>T	c.(2572-2574)acG>acT	p.T858T	SUGP2_ENST00000452918.2_Silent_p.T858T|SUGP2_ENST00000337018.6_Silent_p.T858T|SUGP2_ENST00000456085.2_Silent_p.T627T|SUGP2_ENST00000600377.1_Silent_p.T872T			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	858					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T858T(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTGAGAACCCGTGGTGTCAC	0.537																																						uc002nkx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2572-2574)ACG>ACT		splicing factor, arginine/serine-rich 14							68.0	67.0	67.0					19																	19115332		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19115332C>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2574G>T	19.37:g.19115332C>A						SFRS14_uc002nkz.1_Silent_p.T872T|SFRS14_uc002nla.1_Silent_p.T858T|SFRS14_uc002nlb.2_Silent_p.T858T|SFRS14_uc010xqk.1_Silent_p.T627T	p.T858T	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		7	2720	-			858					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.2574G>T	CCDS12392.1																																																																																				PASS	0.537	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		4	127	4	127	---	---	---	---
RFXANK	8625	broad.mit.edu	37	19	19308355	19308355	+	Silent	SNP	C	C	T	rs139803434	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:19308355C>T	ENST00000303088.4	+	6	837	c.363C>T	c.(361-363)gaC>gaT	p.D121D	RFXANK_ENST00000353145.1_Silent_p.D98D|RFXANK_ENST00000392324.4_Silent_p.D98D|RFXANK_ENST00000456252.3_Silent_p.D99D|RFXANK_ENST00000407360.3_Silent_p.D121D	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	121					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.D121D(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			ACAAGCCAGACGAGCGCGGCT	0.652																																						uc002nls.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(361-363)GAC>GAT		regulatory factor X-associated		C	,	0,4406		0,0,2203	32.0	31.0	32.0		363,294	-3.6	0.3	19	dbSNP_134	32	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	RFXANK	NM_003721.2,NM_134440.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	121/261,98/238	19308355	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8625					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:19308355C>T	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.363C>T	19.37:g.19308355C>T						RFXANK_uc002nlt.2_Silent_p.D98D|RFXANK_uc002nlu.2_Silent_p.D99D|RFXANK_uc002nlv.2_Silent_p.D121D|RFXANK_uc002nlw.2_Silent_p.D120D	p.D121D	NM_003721	NP_003712	O14593	RFXK_HUMAN	Epithelial(12;0.00228)		6	868	+			121					O95839|Q24JQ1|Q6FGA8	Silent	SNP	ENST00000303088.4	37	c.363C>T	CCDS12395.1																																																																																				PASS	0.652	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		7	35	7	35	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22952023	22952023	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:22952023T>A	ENST00000596209.1	-	2	197	c.107A>T	c.(106-108)aAc>aTc	p.N36I	ZNF99_ENST00000397104.3_Missense_Mutation_p.N57I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	36	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.N57I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTCTGTAGTTCTCTAACAT	0.388																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(169-171)AAC>ATC		zinc finger protein 99							76.0	83.0	81.0					19																	22952023		2202	4300	6502	SO:0001583	missense	7652							g.chr19:22952023T>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.107A>T	19.37:g.22952023T>A	ENSP00000472969:p.Asn36Ile						p.N57I	NM_001080409	NP_001073878					2	170	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.170A>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	11.00	1.511222	0.27036	.	.	ENSG00000213973	ENST00000397104	T	0.03635	3.86	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.18882	0.0453	M	0.92880	3.355	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.05289	-1.0894	9	0.62326	D	0.03	.	4.2126	0.10519	0.0:0.0:0.0:1.0	.	57	A8MXY4	ZNF99_HUMAN	I	57	ENSP00000380293:N57I	ENSP00000380293:N57I	N	-	2	0	ZNF99	22743863	0.256000	0.24012	0.068000	0.19968	0.061000	0.15899	0.015000	0.13355	0.408000	0.25621	0.397000	0.26171	AAC		PASS	0.388	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	100	5	100	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23542902	23542902	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:23542902T>C	ENST00000300619.7	-	4	3084	c.2879A>G	c.(2878-2880)cAt>cGt	p.H960R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H928R|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	960					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H960R(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTCTCCAGTATGAATTATCTT	0.383																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2878-2880)CAT>CGT		zinc finger protein 91							62.0	65.0	64.0					19																	23542902		2142	4271	6413	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542902T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2879A>G	19.37:g.23542902T>C	ENSP00000300619:p.His960Arg					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.H928R	p.H960R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	2992	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	960			C2H2-type 29.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2879A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977232	0.34848	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.67523	-0.27;-0.27	1.52	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83468	0.5261	M	0.93241	3.395	0.30420	N	0.778183	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.77807	-0.2450	9	0.87932	D	0	.	7.8647	0.29530	0.0:0.0:0.0:1.0	.	928;960	Q05481-2;Q05481	.;ZNF91_HUMAN	R	960;928	ENSP00000300619:H960R;ENSP00000380272:H928R	ENSP00000300619:H960R	H	-	2	0	ZNF91	23334742	1.000000	0.71417	0.123000	0.21794	0.006000	0.05464	5.512000	0.67030	0.665000	0.31066	0.172000	0.16884	CAT		PASS	0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		55	60	55	60	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544923	23544923	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:23544923C>A	ENST00000300619.7	-	4	1063	c.858G>T	c.(856-858)agG>agT	p.R286S	ZNF91_ENST00000397082.2_Missense_Mutation_p.R254S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	286					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R286S(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CAGTGTGTATCCTCTTATGTC	0.373																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)AGG>AGT		zinc finger protein 91							96.0	103.0	100.0					19																	23544923		2197	4296	6493	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544923C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.858G>T	19.37:g.23544923C>A	ENSP00000300619:p.Arg286Ser					ZNF91_uc010xrj.1_Missense_Mutation_p.R254S	p.R286S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	971	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	286			C2H2-type 5.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.858G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	7.905	0.735278	0.15574	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.02395	4.31;4.31	1.32	-2.65	0.06095	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	L	0.60904	1.88	0.27235	N	0.9593	B;B	0.31274	0.271;0.317	B;B	0.17722	0.006;0.019	T	0.37056	-0.9722	9	0.59425	D	0.04	.	3.1197	0.06387	0.2066:0.1664:0.0:0.627	.	254;286	Q05481-2;Q05481	.;ZNF91_HUMAN	S	286;254	ENSP00000300619:R286S;ENSP00000380272:R254S	ENSP00000300619:R286S	R	-	3	2	ZNF91	23336763	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-2.573000	0.00912	-0.275000	0.09219	-1.252000	0.01501	AGG		PASS	0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		72	91	72	91	---	---	---	---
CEP89	84902	broad.mit.edu	37	19	33439273	33439273	+	Splice_Site	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:33439273A>G	ENST00000305768.5	-	5	582	c.494T>C	c.(493-495)gTg>gCg	p.V165A	CEP89_ENST00000590597.2_Splice_Site_p.V165A	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	165					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.V165A(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TAACAATGGCACCTTTTTGTT	0.403																																						uc002nty.2																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)GTG>GCG		coiled-coil domain containing 123							70.0	56.0	61.0					19																	33439273		2203	4300	6503	SO:0001630	splice_region_variant	84902					centrosome|spindle pole		g.chr19:33439273A>G	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.493-1T>C	19.37:g.33439273A>G						CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.V165A|CCDC123_uc002nua.2_Missense_Mutation_p.V165A|CCDC123_uc002nub.1_Missense_Mutation_p.V57A	p.V165A	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			5	583	-	Esophageal squamous(110;0.137)		165					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.494T>C	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.104857	0.56291	.	.	ENSG00000121289	ENST00000305768	T	0.34072	1.38	4.69	4.69	0.59074	.	1.901750	0.02617	N	0.102825	T	0.56920	0.2018	M	0.68952	2.095	0.26183	N	0.979702	D;P;P	0.69078	0.997;0.93;0.925	D;P;P	0.66084	0.941;0.561;0.54	T	0.44236	-0.9341	10	0.10111	T	0.7	0.0172	10.727	0.46074	1.0:0.0:0.0:0.0	.	136;165;165	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	A	165	ENSP00000306105:V165A	ENSP00000306105:V165A	V	-	2	0	CEP89	38131113	0.668000	0.27493	0.834000	0.33040	0.042000	0.13812	2.381000	0.44336	2.085000	0.62840	0.533000	0.62120	GTG		PASS	0.403	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	Missense_Mutation	10	34	10	34	---	---	---	---
ZNF302	55900	broad.mit.edu	37	19	35175835	35175835	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:35175835C>G	ENST00000446502.2	+	6	1233	c.1025C>G	c.(1024-1026)tCc>tGc	p.S342C	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000505242.1_Missense_Mutation_p.S298C|ZNF302_ENST00000423823.2_Missense_Mutation_p.S298C|ZNF302_ENST00000457781.2_Missense_Mutation_p.S298C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	377					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.S298C(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTCGTGTGTCCCTTCTCATT	0.428																																						uc002nvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)TCC>TGC		zinc finger protein 302							76.0	77.0	77.0					19																	35175835		2202	4300	6502	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175835C>G	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1025C>G	19.37:g.35175835C>G	ENSP00000396379:p.Ser342Cys					ZNF302_uc002nvp.1_Missense_Mutation_p.S298C|ZNF302_uc002nvq.1_Missense_Mutation_p.S298C|ZNF302_uc002nvs.1_Missense_Mutation_p.S298C	p.S342C	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	1288	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		377			C2H2-type 4.		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.1025C>G		.	.	.	.	.	.	.	.	.	.	C	8.479	0.859333	0.17178	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.37235	3.14;3.14;3.14;1.21	0.967	0.967	0.19674	.	.	.	.	.	T	0.53753	0.1816	M	0.79614	2.46	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73708	0.981;0.971	T	0.33752	-0.9856	9	0.87932	D	0	.	4.9136	0.13835	0.0:0.6062:0.3938:0.0	.	342;298	E7EVR1;Q9NR11-2	.;.	C	298;298;298;342	ENSP00000391067:S298C;ENSP00000421028:S298C;ENSP00000405219:S298C;ENSP00000396379:S342C	ENSP00000405219:S298C	S	+	2	0	ZNF302	39867675	0.000000	0.05858	0.994000	0.49952	0.378000	0.30076	-0.137000	0.10389	0.822000	0.34565	0.467000	0.42956	TCC		PASS	0.428	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			11	248	11	248	---	---	---	---
ZNF302	55900	broad.mit.edu	37	19	35175852	35175852	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:35175852C>G	ENST00000446502.2	+	6	1250	c.1042C>G	c.(1042-1044)Cta>Gta	p.L348V	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000505242.1_Missense_Mutation_p.L304V|ZNF302_ENST00000423823.2_Missense_Mutation_p.L304V|ZNF302_ENST00000457781.2_Missense_Mutation_p.L304V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L304V(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CATTCAGCATCTAAGAATTCA	0.418																																						uc002nvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)CTA>GTA		zinc finger protein 302							69.0	70.0	70.0					19																	35175852		2202	4300	6502	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175852C>G	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1042C>G	19.37:g.35175852C>G	ENSP00000396379:p.Leu348Val					ZNF302_uc002nvp.1_Missense_Mutation_p.L304V|ZNF302_uc002nvq.1_Missense_Mutation_p.L304V|ZNF302_uc002nvs.1_Missense_Mutation_p.L304V	p.L348V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	1305	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		383			C2H2-type 4.		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.1042C>G		.	.	.	.	.	.	.	.	.	.	C	7.043	0.562893	0.13498	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	0.967	-1.51	0.08664	.	.	.	.	.	T	0.11410	0.0278	N	0.16708	0.43	0.21147	N	0.999779	D;D	0.76494	0.979;0.999	D;D	0.74023	0.982;0.939	T	0.25398	-1.0133	9	0.87932	D	0	.	5.8275	0.18562	0.0:0.675:0.0:0.325	.	348;304	E7EVR1;Q9NR11-2	.;.	V	304;304;304;348	ENSP00000391067:L304V;ENSP00000421028:L304V;ENSP00000405219:L304V;ENSP00000396379:L348V	ENSP00000405219:L304V	L	+	1	2	ZNF302	39867692	0.000000	0.05858	0.978000	0.43139	0.143000	0.21401	-0.013000	0.12678	-0.501000	0.06605	-0.670000	0.03821	CTA		PASS	0.418	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			14	247	14	247	---	---	---	---
ZNF146	7705	broad.mit.edu	37	19	36727715	36727715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:36727715G>T	ENST00000443387.2	+	4	1365	c.373G>T	c.(373-375)Gag>Tag	p.E125*	ZNF146_ENST00000456324.1_Nonsense_Mutation_p.E125*|ZNF565_ENST00000355114.5_Intron	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	125					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E125*(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TCACACAGGAGAGAAGCCCTT	0.408																																						uc002odq.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(373-375)GAG>TAG		zinc finger protein 146							61.0	65.0	64.0					19																	36727715		2203	4300	6503	SO:0001587	stop_gained	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727715G>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.373G>T	19.37:g.36727715G>T	ENSP00000392095:p.Glu125*					ZNF146_uc010eet.2_Nonsense_Mutation_p.E125*|ZNF146_uc010eeu.2_Nonsense_Mutation_p.E125*	p.E125*	NM_007145	NP_009076	Q15072	OZF_HUMAN			4	1896	+	Esophageal squamous(110;0.162)		125					Q2TB94	Nonsense_Mutation	SNP	ENST00000443387.2	37	c.373G>T	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	G	48	14.854740	0.99813	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	.	.	.	4.32	4.32	0.51571	.	0.000000	0.40728	N	0.001030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.7648	16.8231	0.85923	0.0:0.0:1.0:0.0	.	.	.	.	X	125	.	ENSP00000392095:E125X	E	+	1	0	ZNF146	41419555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.319000	0.51983	2.700000	0.92200	0.549000	0.68633	GAG		PASS	0.408	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		64	234	64	234	---	---	---	---
SUPT5H	6829	broad.mit.edu	37	19	39955614	39955614	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:39955614G>A	ENST00000599117.1	+	12	1168	c.801G>A	c.(799-801)gtG>gtA	p.V267V	SUPT5H_ENST00000402194.2_Silent_p.V263V|SUPT5H_ENST00000432763.2_Silent_p.V267V|SUPT5H_ENST00000598725.1_Silent_p.V267V|SUPT5H_ENST00000359191.6_Silent_p.V263V			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	267	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.V267V(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCAAAGTGGTGAAGGAGGTGG	0.607																																						uc002olo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(799-801)GTG>GTA		suppressor of Ty 5 homolog isoform a							97.0	82.0	87.0					19																	39955614		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39955614G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.801G>A	19.37:g.39955614G>A						SUPT5H_uc002olp.3_Silent_p.V267V|SUPT5H_uc002olq.3_Silent_p.V263V|SUPT5H_uc002oln.3_Silent_p.V267V|SUPT5H_uc002olr.3_Silent_p.V267V|SUPT5H_uc002ols.1_5'Flank	p.V267V	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	980	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		267			Interaction with SUPT4H1.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.801G>A	CCDS12536.1																																																																																				PASS	0.607	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		40	717	40	717	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433534	40433534	+	Silent	SNP	C	C	T	rs142265008		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:40433534C>T	ENST00000221347.6	-	2	742	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	245	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.T245T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCAGGCAGACGTGGGTAGCA	0.582																																						uc002omp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(733-735)ACG>ACA		Fc fragment of IgG binding protein precursor		T		1,4405	822.6+/-416.5	0,1,2202	68.0	61.0	63.0		735	-8.8	0.2	19	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/5406	40433534	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433534C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.735G>A	19.37:g.40433534C>T							p.T245T	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	743	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		245			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.735G>A	CCDS12546.1																																																																																				PASS	0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		54	331	54	331	---	---	---	---
KLK3	354	broad.mit.edu	37	19	51359544	51359544	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:51359544A>G	ENST00000326003.2	+	2	136	c.95A>G	c.(94-96)gAg>gGg	p.E32G	KLK3_ENST00000593997.1_Missense_Mutation_p.E32G|KLK3_ENST00000595952.1_Missense_Mutation_p.E32G|KLK3_ENST00000360617.3_Missense_Mutation_p.E32G|KLK3_ENST00000597483.1_Missense_Mutation_p.E32G	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	32	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		E -> K (in dbSNP:rs2271092).		cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E32G(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGGGAGTGCGAGAAGCATTCC	0.637																																					Colon(185;1767 2023 13025 30120 37630)	uc002pts.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(94-96)GAG>GGG		prostate specific antigen isoform 3							119.0	109.0	112.0					19																	51359544		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51359544A>G	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.95A>G	19.37:g.51359544A>G	ENSP00000314151:p.Glu32Gly					KLK3_uc002ptp.1_Missense_Mutation_p.E32G|KLK3_uc010ycj.1_Missense_Mutation_p.E32G|KLK3_uc002ptr.1_Missense_Mutation_p.E32G|KLK3_uc010eof.1_RNA	p.E32G	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	2	136	+		all_neural(266;0.057)	32			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.95A>G	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094794	0.36952	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000435152;ENST00000326052	D;D;D	0.89343	-2.5;-2.5;-2.5	2.1	-0.312	0.12758	.	1.773860	0.03477	N	0.214508	D	0.86464	0.5939	N	0.10916	0.065	0.09310	N	1	P;D;B;P	0.64830	0.538;0.994;0.196;0.874	P;D;B;P	0.65773	0.464;0.938;0.112;0.569	T	0.75048	-0.3455	10	0.52906	T	0.07	.	3.8322	0.08879	0.345:0.439:0.0:0.2161	.	32;32;32;32	Q8NCW4;G3XAE3;G3V0H4;C9JXH3	.;.;.;.	G	32	ENSP00000314151:E32G;ENSP00000393628:E32G;ENSP00000353829:E32G	ENSP00000314151:E32G	E	+	2	0	KLK3	56051356	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-0.696000	0.05104	-0.159000	0.11021	0.358000	0.22013	GAG		PASS	0.637	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		68	68	68	68	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56321463	56321463	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr19:56321463G>A	ENST00000589093.1	-	3	606	c.513C>T	c.(511-513)atC>atT	p.I171I	NLRP11_ENST00000360133.3_Silent_p.I171I|NLRP11_ENST00000443188.1_Silent_p.I171I|NLRP11_ENST00000592953.1_Silent_p.I72I|NLRP11_ENST00000589824.2_Silent_p.I171I			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	171	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.I171I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCTCACCCTTGATCCACCTCA	0.453																																						uc010ygf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(511-513)ATC>ATT		NLR family, pyrin domain containing 11							132.0	115.0	121.0					19																	56321463		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56321463G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.513C>T	19.37:g.56321463G>A						NLRP11_uc002qlz.2_Silent_p.I72I|NLRP11_uc002qmb.2_Silent_p.I72I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.I171I	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1224	-		Colorectal(82;0.0002)	171			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.513C>T	CCDS12935.1																																																																																				PASS	0.453	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		36	30	36	30	---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1285934	1285934	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:1285934G>A	ENST00000381873.3	+	6	957	c.721G>A	c.(721-723)Gca>Aca	p.A241T	SNPH_ENST00000381867.1_Missense_Mutation_p.A285T	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	241					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.A241T(1)|p.A285T(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGAGGATGGGGCAGACAGTGG	0.667																																						uc002wes.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(721-723)GCA>ACA		syntaphilin							27.0	27.0	27.0					20																	1285934		2201	4295	6496	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285934G>A		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.721G>A	20.37:g.1285934G>A	ENSP00000371297:p.Ala241Thr					SNPH_uc002wet.2_Missense_Mutation_p.A285T	p.A241T	NM_014723	NP_055538	O15079	SNPH_HUMAN			6	957	+			241					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.721G>A	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295664	0.23564	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	2.69	0.31865	.	1.195800	0.05862	N	0.623103	T	0.46386	0.1390	L	0.43152	1.355	0.09310	N	1	B;B	0.22414	0.069;0.069	B;B	0.21360	0.034;0.034	T	0.48547	-0.9026	9	0.72032	D	0.01	-0.1289	14.1514	0.65387	0.0:0.2871:0.7129:0.0	.	285;241	O15079-2;O15079	.;SNPH_HUMAN	T	241;285	.	ENSP00000371291:A285T	A	+	1	0	SNPH	1233934	0.001000	0.12720	0.337000	0.25536	0.456000	0.32438	0.884000	0.28214	0.550000	0.28991	0.561000	0.74099	GCA		PASS	0.667	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		7	37	7	37	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9520247	9520247	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:9520247C>A	ENST00000378429.3	-	11	2568	c.2022G>T	c.(2020-2022)cgG>cgT	p.R674R	PAK7_ENST00000378423.1_Silent_p.R674R|PAK7_ENST00000353224.5_Silent_p.R674R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	674	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R674R(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTAGGAATCCCCGGAGCACTG	0.488																																						uc002wnl.2																			1	Substitution - coding silent(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(2020-2022)CGG>CGT		p21-activated kinase 7							157.0	152.0	153.0					20																	9520247		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9520247C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2022G>T	20.37:g.9520247C>A						PAK7_uc002wnk.2_Silent_p.R674R|PAK7_uc002wnj.2_Silent_p.R674R|PAK7_uc010gby.1_Silent_p.R587R	p.R674R	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		11	2567	-			674			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.2022G>T	CCDS13107.1																																																																																				PASS	0.488	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			138	164	138	164	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9538334	9538334	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:9538334G>T	ENST00000378429.3	-	8	2210	c.1664C>A	c.(1663-1665)gCt>gAt	p.A555D	PAK7_ENST00000378423.1_Missense_Mutation_p.A555D|PAK7_ENST00000353224.5_Missense_Mutation_p.A555D	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> S (in dbSNP:rs34102290). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A555D(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTAGGAGAGAGCTCTCAGAAC	0.428																																						uc002wnl.2																			1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1663-1665)GCT>GAT		p21-activated kinase 7							142.0	122.0	129.0					20																	9538334		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9538334G>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1664C>A	20.37:g.9538334G>T	ENSP00000367686:p.Ala555Asp					PAK7_uc002wnk.2_Missense_Mutation_p.A555D|PAK7_uc002wnj.2_Missense_Mutation_p.A555D|PAK7_uc010gby.1_Missense_Mutation_p.A555D	p.A555D	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		8	2209	-			555			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1664C>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245370	0.95272	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.26373	1.74;1.74;1.74	5.69	5.69	0.88448	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	T	0.70474	0.3228	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.82746	-0.0305	9	.	.	.	.	19.8171	0.96573	0.0:0.0:1.0:0.0	.	555;555	B0AZM9;Q9P286	.;PAK7_HUMAN	D	555;555;555;503	ENSP00000367686:A555D;ENSP00000322957:A555D;ENSP00000367679:A555D	.	A	-	2	0	PAK7	9486334	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.869000	0.99810	2.678000	0.91216	0.643000	0.83706	GCT		PASS	0.428	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			61	74	61	74	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33328472	33328472	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:33328472C>A	ENST00000374796.2	-	12	8158	c.5588G>T	c.(5587-5589)gGg>gTg	p.G1863V	NCOA6_ENST00000359003.2_Missense_Mutation_p.G1863V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1863	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.G1863V(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCCCATGAGCCCCGGAGCTGT	0.537																																						uc002xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(5587-5589)GGG>GTG		nuclear receptor coactivator 6							107.0	110.0	109.0					20																	33328472		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33328472C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5588G>T	20.37:g.33328472C>A	ENSP00000363929:p.Gly1863Val					NCOA6_uc002xaw.2_Missense_Mutation_p.G1863V	p.G1863V	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			12	8159	-			1863			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.5588G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	9.699	1.153930	0.21371	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.22336	1.96;1.96	5.65	5.65	0.86999	.	0.181563	0.39274	N	0.001402	T	0.12220	0.0297	N	0.14661	0.345	0.45307	D	0.998308	P	0.37015	0.578	B	0.31337	0.128	T	0.07635	-1.0762	10	0.40728	T	0.16	-5.6266	13.3317	0.60490	0.0:0.9259:0.0:0.0741	.	1863	Q14686	NCOA6_HUMAN	V	1863	ENSP00000363929:G1863V;ENSP00000351894:G1863V	ENSP00000351894:G1863V	G	-	2	0	NCOA6	32792133	0.801000	0.28930	1.000000	0.80357	0.134000	0.20937	1.248000	0.32827	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		107	141	107	141	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35443639	35443639	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:35443639C>T	ENST00000357779.3	-	5	1818	c.1492G>A	c.(1492-1494)Ggg>Agg	p.G498R	SOGA1_ENST00000456801.2_Missense_Mutation_p.G339R|SOGA1_ENST00000279034.6_Missense_Mutation_p.G498R|SOGA1_ENST00000237536.4_Missense_Mutation_p.G736R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	498					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G736R(3)|p.G498R(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ACAGAGCACCCGAGGACTGCA	0.607																																						uc002xgd.1																			4	Substitution - Missense(4)		lung(4)		0						c.(1492-1494)GGG>AGG		hypothetical protein LOC140710 isoform 2							73.0	84.0	80.0					20																	35443639		2188	4284	6472	SO:0001583	missense	140710							g.chr20:35443639C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1492G>A	20.37:g.35443639C>T	ENSP00000350424:p.Gly498Arg					C20orf117_uc002xge.1_RNA	p.G498R	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1819	-		Myeloproliferative disorder(115;0.00874)	498					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1492G>A		.	.	.	.	.	.	.	.	.	.	C	11.29	1.596032	0.28445	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18174	2.24;2.23;2.24;2.25	5.2	5.2	0.72013	.	0.377810	0.27686	N	0.018261	T	0.39091	0.1065	M	0.63843	1.955	0.49389	D	0.999784	D	0.89917	1.0	D	0.72982	0.979	T	0.01814	-1.1268	10	0.30078	T	0.28	-44.4907	17.6614	0.88193	0.0:1.0:0.0:0.0	.	498	O94964-4	.	R	736;498;339;498	ENSP00000237536:G736R;ENSP00000279034:G498R;ENSP00000413886:G339R;ENSP00000350424:G498R	ENSP00000237536:G736R	G	-	1	0	KIAA0889	34877053	0.000000	0.05858	0.050000	0.19076	0.015000	0.08874	0.866000	0.27954	2.706000	0.92434	0.561000	0.74099	GGG		PASS	0.607	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		46	169	46	169	---	---	---	---
R3HDML	140902	broad.mit.edu	37	20	42969916	42969916	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:42969916G>C	ENST00000217043.2	+	2	514	c.342G>C	c.(340-342)atG>atC	p.M114I		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	114	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)	p.M114I(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGCTGATGAGATACGTGG	0.557																																						uc002xls.1																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)ATG>ATC		R3H domain containing-like precursor							69.0	65.0	66.0					20																	42969916		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42969916G>C	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.342G>C	20.37:g.42969916G>C	ENSP00000217043:p.Met114Ile						p.M114I	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	514	+		Myeloproliferative disorder(115;0.028)	114						Missense_Mutation	SNP	ENST00000217043.2	37	c.342G>C	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270171	0.59540	.	.	ENSG00000101074	ENST00000217043	T	0.07908	3.15	5.71	5.71	0.89125	CAP domain (3);	0.092339	0.64402	D	0.000001	T	0.09024	0.0223	L	0.28014	0.82	0.48040	D	0.999577	B	0.28128	0.201	B	0.31245	0.126	T	0.37103	-0.9720	10	0.22109	T	0.4	.	19.4575	0.94900	0.0:0.0:1.0:0.0	.	114	Q9H3Y0	CRSPL_HUMAN	I	114	ENSP00000217043:M114I	ENSP00000217043:M114I	M	+	3	0	R3HDML	42403330	1.000000	0.71417	0.982000	0.44146	0.815000	0.46073	4.329000	0.59260	2.689000	0.91719	0.655000	0.94253	ATG		PASS	0.557	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		26	43	26	43	---	---	---	---
DBNDD2	55861	broad.mit.edu	37	20	44037115	44037115	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:44037115C>G	ENST00000372720.3	+	2	533	c.302C>G	c.(301-303)cCa>cGa	p.P101R	DBNDD2_ENST00000372717.1_Missense_Mutation_p.P3R|DBNDD2_ENST00000372723.3_Missense_Mutation_p.P3R|DBNDD2_ENST00000372710.3_Missense_Mutation_p.P105R|DBNDD2_ENST00000372722.3_Missense_Mutation_p.P3R|DBNDD2_ENST00000360981.4_Missense_Mutation_p.P3R|DBNDD2_ENST00000357275.2_Missense_Mutation_p.P3R|SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_3'UTR|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372712.2_Missense_Mutation_p.P3R	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	101					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)		p.P3R(1)|p.P101R(1)		breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GACATGGACCCAAATCCTCGG	0.577																																						uc002xnx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(7-9)CCA>CGA		SCF apoptosis response protein 1 isoform a							53.0	57.0	56.0					20																	44037115		1881	4107	5988	SO:0001583	missense	767557							g.chr20:44037115C>G	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.302C>G	20.37:g.44037115C>G	ENSP00000361805:p.Pro101Arg					DBNDD2_uc002xnz.2_Missense_Mutation_p.P3R|DBNDD2_uc002xoa.2_Missense_Mutation_p.P3R|DBNDD2_uc002xob.2_Missense_Mutation_p.P3R|DBNDD2_uc002xoc.2_Missense_Mutation_p.P3R|DBNDD2_uc002xod.2_Missense_Mutation_p.P3R|DBNDD2_uc002xoe.2_Missense_Mutation_p.P3R|DBNDD2_uc002xof.2_Missense_Mutation_p.P3R|DBNDD2_uc002xog.2_Missense_Mutation_p.P3R	p.P3R	NM_001048225	NP_001041690					4	504	+								Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	c.8C>G	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.190340|4.190340	0.78789|0.78789	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710|ENST00000443296	T;T;T;T;T;T;T;T|.	0.26660|.	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.270348|.	0.38217|.	N|.	0.001775|.	T|T	0.66386|0.66386	0.2784|0.2784	L|L	0.60455|0.60455	1.87|1.87	0.35833|0.35833	D|D	0.825458|0.825458	P;P|.	0.42456|.	0.78;0.582|.	P;P|.	0.48738|.	0.588;0.588|.	T|T	0.71251|0.71251	-0.4648|-0.4648	10|5	0.87932|.	D|.	0|.	.|.	15.1137|15.1137	0.72380|0.72380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3;101|.	Q5QPV4;Q9BQY9|.	.;DBND2_HUMAN|.	R|E	3;3;3;101;3;3;3;105|63	ENSP00000361808:P3R;ENSP00000361807:P3R;ENSP00000349822:P3R;ENSP00000361805:P101R;ENSP00000361802:P3R;ENSP00000354250:P3R;ENSP00000361797:P3R;ENSP00000361795:P105R|.	ENSP00000349822:P3R|.	P|Q	+|+	2|1	0|0	DBNDD2|DBNDD2	43470529|43470529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.181000|4.181000	0.58303|0.58303	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	CCA|CAA		PASS	0.577	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478		14	92	14	92	---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44869816	44869816	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:44869816G>T	ENST00000372262.3	-	2	736	c.336C>A	c.(334-336)atC>atA	p.I112I	CDH22_ENST00000537909.1_Silent_p.I112I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I112I(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCAGCTCGTCGATCAGGAAGA	0.617																																						uc002xrm.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(4)|skin(1)	5						c.(334-336)ATC>ATA		cadherin 22 precursor							78.0	67.0	71.0					20																	44869816		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44869816G>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.336C>A	20.37:g.44869816G>T						CDH22_uc010ghk.1_Silent_p.I112I	p.I112I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			2	737	-		Myeloproliferative disorder(115;0.0122)	112			Extracellular (Potential).|Cadherin 1.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.336C>A	CCDS13395.1																																																																																				PASS	0.617	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		18	43	18	43	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61528146	61528146	+	Silent	SNP	C	C	T	rs140512956		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:61528146C>T	ENST00000266070.4	-	7	2116	c.1791G>A	c.(1789-1791)agG>agA	p.R597R	DIDO1_ENST00000395340.1_Silent_p.R597R|DIDO1_ENST00000395343.1_Silent_p.R597R|DIDO1_ENST00000395335.2_Silent_p.R597R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	597					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R597R(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGAGCCATGGCCTCTTGGGGA	0.592																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)	6						c.(1789-1791)AGG>AGA		death inducer-obliterator 1 isoform c		C	,,,	0,4406		0,0,2203	69.0	70.0	70.0		1791,1791,1791,1791	0.0	1.0	20	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	597/2241,597/1190,597/2241,597/1190	61528146	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61528146C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1791G>A	20.37:g.61528146C>T						DIDO1_uc002yds.1_Silent_p.R597R|DIDO1_uc002ydt.1_Silent_p.R597R|DIDO1_uc002ydu.1_Silent_p.R597R	p.R597R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			7	2055	-	Breast(26;5.68e-08)		597					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.1791G>A	CCDS33506.1																																																																																				PASS	0.592	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		26	106	26	106	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62196785	62196785	+	Silent	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:62196785G>A	ENST00000467148.1	-	8	3459	c.3390C>T	c.(3388-3390)cgC>cgT	p.R1130R	HELZ2_ENST00000427522.2_Silent_p.R561R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1130					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1130R(1)									AAGAGCAGTGGCGGTACCGCT	0.706																																						uc002yfm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(3388-3390)CGC>CGT		PPAR-alpha interacting complex protein 285							13.0	14.0	14.0					20																	62196785		2159	4252	6411	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62196785G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3390C>T	20.37:g.62196785G>A						PRIC285_uc002yfl.1_Silent_p.R561R	p.R1130R	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4282	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1130					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.3390C>T	CCDS33508.1																																																																																				PASS	0.706	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		4	4	4	4	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737593	62737593	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr20:62737593C>A	ENST00000369768.1	-	1	931	c.592G>T	c.(592-594)Ggg>Tgg	p.G198W		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	198					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.G198W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AAGCTCAGCCCACAGCTTGGG	0.632																																						uc011abt.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(592-594)GGG>TGG		neuropeptides B/W receptor 2							48.0	43.0	45.0					20																	62737593		2201	4294	6495	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737593C>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.592G>T	20.37:g.62737593C>A	ENSP00000358783:p.Gly198Trp						p.G198W	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	592	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		198			Extracellular (Potential).		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.592G>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715065	0.48622	.	.	ENSG00000125522	ENST00000369768	T	0.37411	1.2	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.257503	0.29861	U	0.011015	T	0.53318	0.1789	L	0.49256	1.55	0.30726	N	0.747749	D	0.89917	1.0	D	0.75020	0.985	T	0.58967	-0.7542	10	0.62326	D	0.03	.	15.4756	0.75478	0.0:1.0:0.0:0.0	.	198	P48146	NPBW2_HUMAN	W	198	ENSP00000358783:G198W	ENSP00000358783:G198W	G	-	1	0	NPBWR2	62208037	0.010000	0.17322	0.880000	0.34516	0.652000	0.38707	0.536000	0.23129	1.697000	0.51169	0.491000	0.48974	GGG		PASS	0.632	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		10	31	10	31	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15591942	15591942	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr21:15591942T>C	ENST00000400577.3	+	2	164	c.155T>C	c.(154-156)tTt>tCt	p.F52S	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	52	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.F52S(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CCAAAGTCTTTTGGATTTGTC	0.373																																						uc002yjo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)TTT>TCT		RNA binding motif protein 11							79.0	74.0	75.0					21																	15591942		1568	3582	5150	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15591942T>C	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.155T>C	21.37:g.15591942T>C	ENSP00000383421:p.Phe52Ser					RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_Intron	p.F52S	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	2	197	+			52			RRM.		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.155T>C	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431116	0.83776	.	.	ENSG00000185272	ENST00000400577	T	0.78816	-1.21	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.090555	0.46758	D	0.000262	D	0.88890	0.6560	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.90300	0.4329	10	0.59425	D	0.04	-24.9108	15.2069	0.73186	0.0:0.0:0.0:1.0	.	52	P57052	RBM11_HUMAN	S	52	ENSP00000383421:F52S	ENSP00000383421:F52S	F	+	2	0	RBM11	14513813	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.548000	0.60718	2.150000	0.67090	0.533000	0.62120	TTT		PASS	0.373	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		18	10	18	10	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33074095	33074095	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr21:33074095G>T	ENST00000286835.7	-	6	976	c.594C>A	c.(592-594)ggC>ggA	p.G198G	SCAF4_ENST00000434667.3_Silent_p.G183G|SCAF4_ENST00000399804.1_Silent_p.G198G	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	198						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G198G(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTACCTGTTGGCCTTGAGTTG	0.453																																						uc002ypd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)GGC>GGA		splicing factor, arginine/serine-rich 15 isoform							76.0	72.0	73.0					21																	33074095		2203	4300	6503	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33074095G>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.594C>A	21.37:g.33074095G>T						SFRS15_uc002ype.2_Silent_p.G198G|SFRS15_uc010glu.2_Silent_p.G183G|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Silent_p.G198G	p.G198G	NM_020706	NP_065757	O95104	SFR15_HUMAN			6	1020	-			198					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.594C>A	CCDS33537.1																																																																																				PASS	0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		21	27	21	27	---	---	---	---
POTEH	23784	broad.mit.edu	37	22	16287437	16287437	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr22:16287437C>A	ENST00000343518.6	-	1	500	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	150								p.G150V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTGTTCTTGCCGCTCCCCCT	0.592																																						uc010gqp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(448-450)GGC>GTC		ANKRD26-like family C, member 3							166.0	177.0	173.0					22																	16287437		2034	3897	5931	SO:0001583	missense	23784							g.chr22:16287437C>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.449G>T	22.37:g.16287437C>A	ENSP00000340610:p.Gly150Val					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	p.G150V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	501	-			150					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.449G>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	8.508	0.865821	0.17250	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.26067	1.76	.	.	.	.	.	.	.	.	T	0.22666	0.0547	L	0.50333	1.59	0.09310	N	0.999999	B	0.34181	0.44	B	0.36289	0.221	T	0.24261	-1.0165	7	0.87932	D	0	.	.	.	.	.	150	Q6S545	POTEH_HUMAN	V	113;150;150	ENSP00000340610:G150V	ENSP00000340610:G150V	G	-	2	0	POTEH	14667437	0.000000	0.05858	0.009000	0.14445	0.077000	0.17291	-1.078000	0.03413	0.149000	0.19098	0.152000	0.16155	GGC		PASS	0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		47	190	47	190	---	---	---	---
C22orf29	79680	broad.mit.edu	37	22	19839124	19839124	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr22:19839124C>G	ENST00000405640.1	-	2	1329	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	C22orf29_ENST00000407472.1_Missense_Mutation_p.E221Q|C22orf29_ENST00000328554.4_Missense_Mutation_p.E221Q|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	221					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)		p.E221Q(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GCCAGGCCCTCTAAGAACCTA	0.602																																						uc002zqg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)GAG>CAG		hypothetical protein LOC79680							52.0	52.0	52.0					22																	19839124		2203	4300	6503	SO:0001583	missense	79680							g.chr22:19839124C>G	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.661G>C	22.37:g.19839124C>G	ENSP00000384924:p.Glu221Gln					GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.E221Q|C22orf29_uc002zqi.2_Missense_Mutation_p.E221Q|C22orf29_uc010grt.1_Intron	p.E221Q	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN			2	1260	-	Colorectal(54;0.0993)		221					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.661G>C	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	3.894	-0.023360	0.07634	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.30714	1.52;1.52;1.52	3.68	2.66	0.31614	.	0.261425	0.16816	U	0.198364	T	0.24044	0.0582	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	P	0.56563	0.801	T	0.03673	-1.1014	10	0.45353	T	0.12	.	6.8569	0.24046	0.0:0.8746:0.0:0.1254	.	221	Q7L3V2	CV029_HUMAN	Q	221	ENSP00000386111:E221Q;ENSP00000330596:E221Q;ENSP00000384924:E221Q	ENSP00000330596:E221Q	E	-	1	0	C22orf29	18219124	0.002000	0.14202	0.006000	0.13384	0.300000	0.27592	0.328000	0.19681	1.128000	0.42052	0.563000	0.77884	GAG		PASS	0.602	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		27	64	27	64	---	---	---	---
RFPL3	10738	broad.mit.edu	37	22	32756325	32756325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr22:32756325C>T	ENST00000249007.4	+	2	665	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Nonsense_Mutation_p.Q125*|RFPL3_ENST00000382088.3_Nonsense_Mutation_p.Q125*|RFPL3S_ENST00000382084.4_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	154	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.Q154*(1)|p.Q125*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCTCATCACACAGAATCGGCA	0.557																																						uc003amj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(460-462)CAG>TAG		ret finger protein-like 3 isoform 1							152.0	135.0	141.0					22																	32756325		2203	4300	6503	SO:0001587	stop_gained	10738						zinc ion binding	g.chr22:32756325C>T	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.460C>T	22.37:g.32756325C>T	ENSP00000249007:p.Gln154*					RFPL3_uc010gwn.2_Nonsense_Mutation_p.Q125*|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	p.Q154*	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			2	665	+			154			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Nonsense_Mutation	SNP	ENST00000249007.4	37	c.460C>T	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399687	0.42512	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	.	.	.	0.664	-0.629	0.11533	.	.	.	.	.	.	.	.	.	.	.	0.31774	N	0.631686	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.8667	0.13611	0.0:0.728:0.0:0.272	.	.	.	.	X	125;154;125	.	ENSP00000249007:Q154X	Q	+	1	0	RFPL3	31086325	0.000000	0.05858	0.018000	0.16275	0.031000	0.12232	-0.123000	0.10611	-0.224000	0.09928	0.194000	0.17425	CAG		PASS	0.557	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		45	121	45	121	---	---	---	---
RASD2	23551	broad.mit.edu	37	22	35942983	35942983	+	Missense_Mutation	SNP	C	C	T	rs368099253		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr22:35942983C>T	ENST00000216127.4	+	2	769	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	43					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R43C(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CCTCAATGGCCGCTTTGAGGA	0.582																																						uc003anx.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(127-129)CGC>TGC		RASD family, member 2 precursor		C	CYS/ARG	0,4406		0,0,2203	134.0	95.0	108.0		127	5.3	1.0	22		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASD2	NM_014310.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	43/267	35942983	1,13005	2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35942983C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.127C>T	22.37:g.35942983C>T	ENSP00000216127:p.Arg43Cys					RASD2_uc003any.2_Missense_Mutation_p.R43C	p.R43C	NM_014310	NP_055125	Q96D21	RHES_HUMAN			2	332	+			43					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.127C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110710	0.77210	0.0	1.16E-4	ENSG00000100302	ENST00000216127	T	0.77750	-1.12	5.3	5.3	0.74995	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86577	0.5966	M	0.62088	1.915	0.58432	D	0.999998	D	0.89917	1.0	D	0.68621	0.959	D	0.87005	0.2119	10	0.56958	D	0.05	.	19.0173	0.92900	0.0:1.0:0.0:0.0	.	43	Q96D21	RHES_HUMAN	C	43	ENSP00000216127:R43C	ENSP00000216127:R43C	R	+	1	0	RASD2	34272929	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.344000	0.44010	2.499000	0.84300	0.558000	0.71614	CGC		PASS	0.582	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		5	21	5	21	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41745268	41745268	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr22:41745268C>T	ENST00000352645.4	+	16	2168	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	ZC3H7B_ENST00000351589.4_Silent_p.F637F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	653					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F637F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCCACAGCTTCATCGAGCTCA	0.652																																						uc003azw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1909-1911)TTC>TTT		zinc finger CCCH-type containing 7B							89.0	71.0	77.0					22																	41745268		2202	4300	6502	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41745268C>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1911C>T	22.37:g.41745268C>T						ZC3H7B_uc010gyl.1_Intron	p.F637F	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			16	2127	+			653			C3H1-type 2.		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.1911C>T	CCDS14013.1																																																																																				PASS	0.652	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		18	39	18	39	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2184904	2184904	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:2184904A>G	ENST00000334651.5	-	5	525	c.473T>C	c.(472-474)cTg>cCg	p.L158P	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	158							oxidoreductase activity (GO:0016491)	p.L158P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAGGTTGGTCAGCAGGAAGTG	0.547																																						uc004cqf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CTG>CCG		dehydrogenase/reductase (SDR family) X-linked							415.0	364.0	381.0					X																	2184904		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184904A>G	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.473T>C	X.37:g.2184904A>G	ENSP00000334113:p.Leu158Pro						p.L158P	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			5	522	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	158					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.473T>C	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418776	0.42918	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	D;D;D	0.92299	-3.01;-3.01;-3.01	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000019	D	0.96734	0.8934	H	0.96547	3.84	0.53688	D	0.999975	D	0.89917	1.0	D	0.97110	1.0	D	0.95938	0.8944	10	0.87932	D	0	.	9.6251	0.39746	1.0:0.0:0.0:0.0	.	158	Q8N5I4	DHRSX_HUMAN	P	158;135;91	ENSP00000334113:L158P;ENSP00000391778:L135P;ENSP00000402741:L91P	ENSP00000334113:L158P	L	-	2	0	DHRSX	2194904	1.000000	0.71417	0.931000	0.37212	0.451000	0.32288	3.616000	0.54174	0.703000	0.31848	0.225000	0.17782	CTG		PASS	0.547	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		96	194	96	194	---	---	---	---
PNPLA4	8228	broad.mit.edu	37	X	7880069	7880069	+	Splice_Site	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:7880069C>A	ENST00000381042.4	-	5	647	c.477G>T	c.(475-477)caG>caT	p.Q159H	PNPLA4_ENST00000537427.1_Splice_Site_p.Q72H|PNPLA4_ENST00000444736.1_Splice_Site_p.Q159H	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	159	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)	p.Q159H(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ACAAGCTTACCTGCCCTTTGT	0.368																																						uc011mhq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CAG>CAT		patatin-like phospholipase domain containing 4							127.0	110.0	116.0					X																	7880069		2203	4299	6502	SO:0001630	splice_region_variant	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7880069C>A	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.477+1G>T	X.37:g.7880069C>A						PNPLA4_uc011mhr.1_Missense_Mutation_p.Q159H|PNPLA4_uc011mhs.1_Missense_Mutation_p.Q72H	p.Q159H	NM_004650	NP_004641	P41247	PLPL4_HUMAN			5	639	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	159			Patatin.		A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	c.477G>T	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415681	0.62511	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.15	4.15	0.48705	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.218004	0.39407	N	0.001374	T	0.72301	0.3443	M	0.79475	2.455	0.44477	D	0.997419	D	0.60575	0.988	P	0.62813	0.907	T	0.75045	-0.3456	9	.	.	.	-21.5238	12.5511	0.56227	0.0:1.0:0.0:0.0	.	159	P41247	PLPL4_HUMAN	H	159;159;72;159	ENSP00000370430:Q159H;ENSP00000415245:Q159H;ENSP00000443157:Q72H;ENSP00000406698:Q159H	.	Q	-	3	2	PNPLA4	7840069	1.000000	0.71417	0.814000	0.32528	0.949000	0.60115	5.405000	0.66351	1.667000	0.50832	0.600000	0.82982	CAG		PASS	0.368	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650	Missense_Mutation	44	33	44	33	---	---	---	---
GRPR	2925	broad.mit.edu	37	X	16170751	16170751	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:16170751C>A	ENST00000380289.2	+	3	1536	c.1138C>A	c.(1138-1140)Cac>Aac	p.H380N	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	380					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.H380N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AAACATCTGTCACGAGCGGTA	0.522																																						uc004cxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1138-1140)CAC>AAC		gastrin-releasing peptide receptor							160.0	148.0	152.0					X																	16170751		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170751C>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1138C>A	X.37:g.16170751C>A	ENSP00000369643:p.His380Asn						p.H380N	NM_005314	NP_005305	P30550	GRPR_HUMAN			3	1791	+	Hepatocellular(33;0.183)		380			Cytoplasmic (Potential).		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.1138C>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671518	0.47781	.	.	ENSG00000126010	ENST00000380289	T	0.63913	-0.07	5.62	4.76	0.60689	.	0.061993	0.64402	D	0.000004	T	0.52500	0.1738	L	0.51422	1.61	0.47065	D	0.999308	P	0.42827	0.791	B	0.35510	0.204	T	0.49643	-0.8918	10	0.24483	T	0.36	-12.5366	14.1544	0.65407	0.1506:0.8494:0.0:0.0	.	380	P30550	GRPR_HUMAN	N	380	ENSP00000369643:H380N	ENSP00000369643:H380N	H	+	1	0	GRPR	16080672	1.000000	0.71417	0.995000	0.50966	0.845000	0.48019	4.064000	0.57506	1.131000	0.42111	-0.205000	0.12727	CAC		PASS	0.522	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		118	75	118	75	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627282	21627282	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:21627282C>A	ENST00000379510.3	+	20	2275	c.2239C>A	c.(2239-2241)Cag>Aag	p.Q747K	CNKSR2_ENST00000425654.2_Missense_Mutation_p.Q717K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q747K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q698K	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	747					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.Q747K(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGAGTTTCGCCAGGAAGTAAC	0.522																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(2239-2241)CAG>AAG		connector enhancer of kinase suppressor of Ras							75.0	74.0	75.0					X																	21627282		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627282C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2239C>A	X.37:g.21627282C>A	ENSP00000368824:p.Gln747Lys					CNKSR2_uc004czw.2_Missense_Mutation_p.Q747K|CNKSR2_uc011mjn.1_Missense_Mutation_p.Q698K|CNKSR2_uc011mjo.1_Missense_Mutation_p.Q717K|CNKSR2_uc004czy.2_Missense_Mutation_p.Q339K	p.Q747K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			20	2275	+			747					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2239C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117882	0.37339	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.17691	2.53;2.26;2.27;2.54	5.28	5.28	0.74379	.	0.318395	0.33875	N	0.004464	T	0.11665	0.0284	N	0.17474	0.49	0.40738	D	0.982805	B;B;B;B	0.28820	0.06;0.102;0.224;0.031	B;B;B;B	0.23574	0.034;0.034;0.047;0.034	T	0.16364	-1.0405	10	0.16420	T	0.52	-25.0934	17.9342	0.89007	0.0:1.0:0.0:0.0	.	717;698;339;747	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	K	717;698;747;747	ENSP00000397906:Q717K;ENSP00000444633:Q698K;ENSP00000279451:Q747K;ENSP00000368824:Q747K	ENSP00000279451:Q747K	Q	+	1	0	CNKSR2	21537203	0.998000	0.40836	0.997000	0.53966	0.997000	0.91878	4.087000	0.57671	2.168000	0.68352	0.506000	0.49869	CAG		PASS	0.522	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		61	30	61	30	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675230	21675230	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:21675230C>A	ENST00000379499.2	-	1	1218	c.677G>T	c.(676-678)gGc>gTc	p.G226V		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	226	BACK.					extracellular space (GO:0005615)		p.G226V(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GGGAACCAGGCCAAAGCGGAC	0.667																																						uc004czz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(676-678)GGC>GTC		kelch-like 34							18.0	16.0	16.0					X																	21675230		2196	4290	6486	SO:0001583	missense	257240							g.chrX:21675230C>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.677G>T	X.37:g.21675230C>A	ENSP00000368813:p.Gly226Val						p.G226V	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1219	-			226			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.677G>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831659	0.32329	.	.	ENSG00000185915	ENST00000379499	T	0.69040	-0.37	4.65	4.65	0.58169	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81079	0.4748	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83805	0.0238	10	0.72032	D	0.01	.	16.8166	0.85735	0.0:1.0:0.0:0.0	.	226	Q8N239	KLH34_HUMAN	V	226	ENSP00000368813:G226V	ENSP00000368813:G226V	G	-	2	0	KLHL34	21585151	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	5.602000	0.67612	2.145000	0.66743	0.422000	0.28245	GGC		PASS	0.667	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		7	6	7	6	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31676156	31676156	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:31676156G>A	ENST00000357033.4	-	54	8184	c.7978C>T	c.(7978-7980)Cac>Tac	p.H2660Y	DMD_ENST00000359836.1_Missense_Mutation_p.H200Y|DMD_ENST00000378677.2_Missense_Mutation_p.H2656Y|DMD_ENST00000343523.2_Missense_Mutation_p.H200Y|DMD_ENST00000378707.3_Missense_Mutation_p.H200Y|DMD_ENST00000541735.1_Missense_Mutation_p.H200Y|DMD_ENST00000474231.1_Missense_Mutation_p.H200Y	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2660					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.H2660Y(1)|p.H200Y(1)|p.H2656Y(1)|p.H2655Y(1)|p.H1319Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTATCATGTGGACTTTTCTG	0.418																																						uc004dda.1																			5	Substitution - Missense(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(7978-7980)CAC>TAC		dystrophin Dp427m isoform							94.0	87.0	89.0					X																	31676156		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31676156G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7978C>T	X.37:g.31676156G>A	ENSP00000354923:p.His2660Tyr					DMD_uc004dcr.1_Missense_Mutation_p.H200Y|DMD_uc004dcs.1_Missense_Mutation_p.H200Y|DMD_uc004dct.1_Missense_Mutation_p.H200Y|DMD_uc004dcu.1_Missense_Mutation_p.H200Y|DMD_uc004dcv.1_Missense_Mutation_p.H200Y|DMD_uc004dcw.2_Missense_Mutation_p.H1316Y|DMD_uc004dcx.2_Missense_Mutation_p.H1319Y|DMD_uc004dcz.2_Missense_Mutation_p.H2537Y|DMD_uc004dcy.1_Missense_Mutation_p.H2656Y|DMD_uc004ddb.1_Missense_Mutation_p.H2652Y	p.H2660Y	NM_004006	NP_003997	P11532	DMD_HUMAN			54	8222	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2660			Spectrin 18.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7978C>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.78|12.78	2.039617|2.039617	0.35989|0.35989	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75|.	5.29|5.29	3.48|3.48	0.39840|0.39840	.|.	0.459833|.	0.15856|.	U|.	0.241255|.	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.14661|0.14661	0.345|0.345	0.30228|0.30228	N|N	0.796144|0.796144	P;P;B;P;P;B;B;B;P;P|.	0.47910|.	0.902;0.555;0.299;0.614;0.614;0.137;0.096;0.096;0.555;0.5|.	B;B;B;B;B;B;B;B;B;B|.	0.40506|.	0.331;0.278;0.154;0.266;0.266;0.028;0.233;0.233;0.278;0.182|.	T|T	0.23976|0.23976	-1.0173|-1.0173	10|5	0.87932|.	D|.	0|.	.|.	9.199|9.199	0.37246|0.37246	0.0:0.3059:0.4436:0.2505|0.0:0.3059:0.4436:0.2505	.|.	2652;2660;2656;1319;1316;200;200;200;200;200|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.|.	Y|L	2652;1319;1316;356;2656;2660;200;200;2660;2537;200;200;200|388	ENSP00000350765:H356Y;ENSP00000367948:H2656Y;ENSP00000354923:H2660Y;ENSP00000352894:H200Y;ENSP00000340057:H200Y;ENSP00000367979:H200Y;ENSP00000444119:H200Y;ENSP00000417123:H200Y|.	ENSP00000340057:H200Y|.	H|P	-|-	1|2	0|0	DMD|DMD	31586077|31586077	0.797000|0.797000	0.28877|0.28877	0.998000|0.998000	0.56505|0.56505	0.967000|0.967000	0.64934|0.64934	1.137000|1.137000	0.31479|0.31479	0.409000|0.409000	0.25649|0.25649	-0.351000|-0.351000	0.07748|0.07748	CAC|CCA		PASS	0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		35	89	35	89	---	---	---	---
XK	7504	broad.mit.edu	37	X	37545361	37545361	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:37545361G>T	ENST00000378616.3	+	1	350	c.147G>T	c.(145-147)gcG>gcT	p.A49A	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	49					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.A49A(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGCCTTGCGCGCTCGTGCAGC	0.662																																						uc004ddq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)GCG>GCT		membrane transport protein XK							39.0	30.0	33.0					X																	37545361		2202	4299	6501	SO:0001819	synonymous_variant	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37545361G>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.147G>T	X.37:g.37545361G>T							p.A49A	NM_021083	NP_066569	P51811	XK_HUMAN			1	229	+		all_lung(315;0.175)	49			Helical; (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Silent	SNP	ENST00000378616.3	37	c.147G>T	CCDS14241.1																																																																																				PASS	0.662	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		8	9	8	9	---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48369716	48369716	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:48369716T>A	ENST00000326194.6	+	2	213	c.170T>A	c.(169-171)gTg>gAg	p.V57E	PORCN_ENST00000537758.1_Missense_Mutation_p.V57E|PORCN_ENST00000367574.4_Intron|PORCN_ENST00000486272.1_3'UTR|PORCN_ENST00000355961.4_Missense_Mutation_p.V57E|PORCN_ENST00000359882.4_Missense_Mutation_p.V57E|PORCN_ENST00000355092.3_Missense_Mutation_p.V57E|PORCN_ENST00000361988.3_Missense_Mutation_p.V57E|AF196972.9_ENST00000445586.1_RNA	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	57	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.V57E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAAGCACCGTGGCAGGCGGG	0.557											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010nie.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(169-171)GTG>GAG		porcupine isoform D							141.0	117.0	125.0					X																	48369716		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48369716T>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.170T>A	X.37:g.48369716T>A	ENSP00000322304:p.Val57Glu		OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	PORCN_uc004djq.1_Missense_Mutation_p.V170E|PORCN_uc004djr.1_Missense_Mutation_p.V57E|PORCN_uc004djs.1_Missense_Mutation_p.V57E|PORCN_uc004djt.1_Intron|PORCN_uc011mlx.1_Intron|PORCN_uc004dju.1_Intron|PORCN_uc004djv.1_Missense_Mutation_p.V57E|PORCN_uc004djw.1_Missense_Mutation_p.V57E	p.V57E	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			3	328	+			57			Extracellular (Potential).|Leu-rich.		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.170T>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702707	0.68501	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.97959	-3.64;-4.63;-3.63;-2.66;-3.64;-4.63;-3.64	5.52	5.52	0.82312	.	0.066507	0.64402	D	0.000015	D	0.97977	0.9334	L	0.56769	1.78	0.80722	D	1	P;P;P;P;D	0.89917	0.478;0.536;0.478;0.478;1.0	B;B;B;B;D	0.74674	0.174;0.215;0.174;0.174;0.984	D	0.98503	1.0615	10	0.87932	D	0	-11.2739	10.9194	0.47156	0.0:0.0:0.0:1.0	.	57;57;57;57;57	Q9H237-3;Q9H237;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.	E	57	ENSP00000352946:V57E;ENSP00000446401:V57E;ENSP00000348233:V57E;ENSP00000419212:V57E;ENSP00000354978:V57E;ENSP00000322304:V57E;ENSP00000347207:V57E	ENSP00000322304:V57E	V	+	2	0	PORCN	48254660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.787000	0.62432	1.849000	0.53698	0.481000	0.45027	GTG		PASS	0.557	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		81	23	81	23	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53641579	53641579	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:53641579G>C	ENST00000342160.3	-	22	2634	c.2177C>G	c.(2176-2178)tCt>tGt	p.S726C	HUWE1_ENST00000218328.8_Missense_Mutation_p.S726C|HUWE1_ENST00000262854.6_Missense_Mutation_p.S726C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	726					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S726C(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCCTCACTAGAGGCTTCTTC	0.488																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(2176-2178)TCT>TGT		HECT, UBA and WWE domain containing 1							194.0	165.0	175.0					X																	53641579		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53641579G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2177C>G	X.37:g.53641579G>C	ENSP00000340648:p.Ser726Cys						p.S726C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			23	2579	-			726					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2177C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535872	0.85812	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.46451	0.87;0.87;0.87	5.46	5.46	0.80206	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.317474	0.30464	N	0.009579	T	0.64238	0.2580	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.67256	-0.5716	10	0.62326	D	0.03	.	16.9953	0.86366	0.0:0.0:1.0:0.0	.	726	Q7Z6Z7	HUWE1_HUMAN	C	726	ENSP00000340648:S726C;ENSP00000262854:S726C;ENSP00000218328:S726C	ENSP00000218328:S726C	S	-	2	0	HUWE1	53658304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.924000	0.92827	2.275000	0.75901	0.600000	0.82982	TCT		PASS	0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	127	3	127	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63410979	63410979	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:63410979G>A	ENST00000330258.3	-	2	2460	c.2188C>T	c.(2188-2190)Cca>Tca	p.P730S	AMER1_ENST00000403336.1_Missense_Mutation_p.P730S|AMER1_ENST00000374869.3_Missense_Mutation_p.P730S	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	730					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.P730S(2)									TGCATGTCTGGCTCAAACATG	0.507																																						uc004dvo.2																			69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(2188-2190)CCA>TCA		family with sequence similarity 123B							96.0	72.0	80.0					X																	63410979		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63410979G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2188C>T	X.37:g.63410979G>A	ENSP00000329117:p.Pro730Ser						p.P730S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	2461	-			730					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2188C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080674	0.36758	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.41758	1.08;0.99;1.08	5.32	4.45	0.53987	.	0.000000	0.64402	D	0.000020	T	0.32255	0.0823	N	0.14661	0.345	0.39203	D	0.963189	D	0.53312	0.959	P	0.50109	0.631	T	0.04153	-1.0973	10	0.20046	T	0.44	-11.3908	12.3251	0.55007	0.0885:0.0:0.9115:0.0	.	730	Q5JTC6	F123B_HUMAN	S	730	ENSP00000364003:P730S;ENSP00000329117:P730S;ENSP00000384722:P730S	ENSP00000329117:P730S	P	-	1	0	FAM123B	63327704	0.985000	0.35326	1.000000	0.80357	0.759000	0.43091	1.503000	0.35715	2.618000	0.88619	0.600000	0.82982	CCA		PASS	0.507	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	61	3	61	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71349717	71349717	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:71349717C>A	ENST00000545866.1	-	1	2041	c.1674G>T	c.(1672-1674)ggG>ggT	p.G558G	RGAG4_ENST00000609883.1_Silent_p.G558G|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	558								p.G631G(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTCGGTGGCCCCCCTGTCTCG	0.612																																						uc010nlh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1672-1674)GGG>GGT		retrotransposon gag domain containing 4							25.0	30.0	28.0					X																	71349717		1900	4112	6012	SO:0001819	synonymous_variant	340526							g.chrX:71349717C>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1674G>T	X.37:g.71349717C>A						NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	p.G558G	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	2035	-	Renal(35;0.156)		558					A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	c.1674G>T	CCDS55446.1																																																																																				PASS	0.612	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		16	12	16	12	---	---	---	---
FAM46D	169966	broad.mit.edu	37	X	79698639	79698639	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:79698639G>C	ENST00000308293.5	+	3	840	c.601G>C	c.(601-603)Gtt>Ctt	p.V201L	FAM46D_ENST00000538312.1_Missense_Mutation_p.V201L	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	201								p.V201L(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATCCTATCCTGTTGTGGTAGC	0.403																																						uc004edl.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(601-603)GTT>CTT		hypothetical protein LOC169966							78.0	70.0	73.0					X																	79698639		2203	4299	6502	SO:0001583	missense	169966							g.chrX:79698639G>C	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.601G>C	X.37:g.79698639G>C	ENSP00000308575:p.Val201Leu					FAM46D_uc004edm.1_Missense_Mutation_p.V201L	p.V201L	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			5	935	+			201					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.601G>C	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	0.676	-0.800195	0.02841	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.21734	1.99;1.99	4.59	-0.198	0.13224	Domain of unknown function DUF1693 (1);	1.438890	0.04402	N	0.364395	T	0.17280	0.0415	L	0.29908	0.895	0.09310	N	1	B	0.27013	0.166	B	0.21917	0.037	T	0.34502	-0.9826	10	0.52906	T	0.07	-0.3985	9.6024	0.39612	0.6577:0.0:0.3423:0.0	.	201	Q8NEK8	FA46D_HUMAN	L	201	ENSP00000443410:V201L;ENSP00000308575:V201L	ENSP00000308575:V201L	V	+	1	0	FAM46D	79585295	0.003000	0.15002	0.055000	0.19348	0.001000	0.01503	0.149000	0.16243	-0.435000	0.07264	-0.928000	0.02712	GTT		PASS	0.403	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		62	31	62	31	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105166013	105166013	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:105166013C>G	ENST00000243300.9	+	17	2873	c.2570C>G	c.(2569-2571)cCt>cGt	p.P857R	NRK_ENST00000428173.2_Missense_Mutation_p.P858R	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	857					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P858R(1)|p.P857R(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCATCACCACCTTATTCTACT	0.348										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(2569-2571)CCT>CGT		Nik related kinase							131.0	109.0	116.0					X																	105166013		1884	4111	5995	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105166013C>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2570C>G	X.37:g.105166013C>G	ENSP00000434830:p.Pro857Arg	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.P525R	p.P857R	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			17	2873	+			857					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2570C>G		.	.	.	.	.	.	.	.	.	.	C	16.13	3.035357	0.54896	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.81415	-1.48;-1.49	5.12	5.12	0.69794	.	0.000000	0.47093	D	0.000250	T	0.81513	0.4838	N	0.17082	0.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.963	D	0.83870	0.0273	10	0.66056	D	0.02	.	13.2964	0.60298	0.0:1.0:0.0:0.0	.	525;857	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	R	857;858	ENSP00000434830:P857R;ENSP00000438378:P858R	ENSP00000434830:P857R	P	+	2	0	NRK	105052669	0.997000	0.39634	0.994000	0.49952	0.844000	0.47949	3.290000	0.51755	2.445000	0.82738	0.513000	0.50165	CCT		PASS	0.348	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		12	4	12	4	---	---	---	---
TEX13B	56156	broad.mit.edu	37	X	107225025	107225025	+	Silent	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:107225025C>T	ENST00000302917.1	-	2	425	c.333G>A	c.(331-333)ctG>ctA	p.L111L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	111								p.L111L(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGAGTTCCGTCAGGTTTGAGG	0.577																																						uc004enn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(331-333)CTG>CTA		testis expressed 13B							159.0	140.0	147.0					X																	107225025		2199	4300	6499	SO:0001819	synonymous_variant	56156							g.chrX:107225025C>T	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.333G>A	X.37:g.107225025C>T							p.L111L	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	426	-			111					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.333G>A	CCDS14534.1																																																																																				PASS	0.577	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			113	66	113	66	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122532510	122532510	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:122532510C>A	ENST00000371251.1	+	7	988	c.936C>A	c.(934-936)gaC>gaA	p.D312E	GRIA3_ENST00000541091.1_Missense_Mutation_p.D296E|GRIA3_ENST00000542149.1_Missense_Mutation_p.D312E|GRIA3_ENST00000371256.5_Missense_Mutation_p.D312E|GRIA3_ENST00000264357.5_Missense_Mutation_p.D312E			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	312					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.D312E(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TGACACACGACGCAATACTGG	0.428																																						uc004etq.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(934-936)GAC>GAA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						97.0	77.0	84.0					X																	122532510		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122532510C>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.936C>A	X.37:g.122532510C>A	ENSP00000360297:p.Asp312Glu					GRIA3_uc004etr.3_Missense_Mutation_p.D312E|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.D296E	p.D312E	NM_007325	NP_015564	P42263	GRIA3_HUMAN			8	1229	+			312			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.936C>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688601	0.48097	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	6.08	-12.2	0.00006	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.76575	0.988;0.988;0.98	D	0.88597	0.3147	10	0.87932	D	0	.	17.8591	0.88776	0.0:0.5469:0.0:0.4531	.	296;312;312	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	E	312;312;312;312;296	ENSP00000264357:D312E;ENSP00000446146:D312E;ENSP00000360302:D312E;ENSP00000360297:D312E;ENSP00000446440:D296E	ENSP00000264357:D312E	D	+	3	2	GRIA3	122360191	0.127000	0.22367	0.023000	0.16930	0.560000	0.35617	-0.548000	0.06048	-3.152000	0.00230	-3.008000	0.00075	GAC		PASS	0.428	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		23	20	23	20	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122537300	122537300	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:122537300T>A	ENST00000371251.1	+	9	1275	c.1223T>A	c.(1222-1224)tTc>tAc	p.F408Y	GRIA3_ENST00000541091.1_Missense_Mutation_p.F392Y|GRIA3_ENST00000542149.1_Missense_Mutation_p.F408Y|GRIA3_ENST00000371256.5_Missense_Mutation_p.F408Y|GRIA3_ENST00000264357.5_Missense_Mutation_p.F408Y			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	408					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.F408Y(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTTGTGCCTTTCTCAGATCAG	0.433																																						uc004etq.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1222-1224)TTC>TAC		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						219.0	198.0	205.0					X																	122537300		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122537300T>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1223T>A	X.37:g.122537300T>A	ENSP00000360297:p.Phe408Tyr					GRIA3_uc004etr.3_Missense_Mutation_p.F408Y|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.F392Y	p.F408Y	NM_007325	NP_015564	P42263	GRIA3_HUMAN			10	1516	+			408			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1223T>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841750	0.51057	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.87	4.67	0.58626	.	0.289998	0.43110	N	0.000606	T	0.14184	0.0343	L	0.34521	1.04	0.30257	N	0.793527	B;B;B	0.13594	0.0;0.005;0.008	B;B;B	0.13407	0.0;0.004;0.009	T	0.16041	-1.0416	10	0.87932	D	0	.	3.1873	0.06606	0.1858:0.172:0.0:0.6421	.	392;408;408	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	Y	408;408;408;408;392	ENSP00000264357:F408Y;ENSP00000446146:F408Y;ENSP00000360302:F408Y;ENSP00000360297:F408Y;ENSP00000446440:F392Y	ENSP00000264357:F408Y	F	+	2	0	GRIA3	122364981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.642000	0.54367	0.783000	0.33636	0.481000	0.45027	TTC		PASS	0.433	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		143	69	143	69	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122561815	122561815	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:122561815G>C	ENST00000371251.1	+	12	1953	c.1901G>C	c.(1900-1902)gGa>gCa	p.G634A	GRIA3_ENST00000542149.1_Missense_Mutation_p.G634A|GRIA3_ENST00000371256.5_Missense_Mutation_p.G634A|GRIA3_ENST00000264357.5_Missense_Mutation_p.G634A			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	634					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.G634A(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CGCATTGTTGGAGGGGTTTGG	0.433																																						uc004etq.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1900-1902)GGA>GCA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						158.0	137.0	144.0					X																	122561815		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122561815G>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1901G>C	X.37:g.122561815G>C	ENSP00000360297:p.Gly634Ala					GRIA3_uc004etr.3_Missense_Mutation_p.G634A|GRIA3_uc004ets.3_RNA	p.G634A	NM_007325	NP_015564	P42263	GRIA3_HUMAN			13	2194	+			634			Cytoplasmic (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1901G>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458354	0.84317	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.45	5.45	0.79879	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	N	0.16266	0.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.96276	0.9202	10	0.40728	T	0.16	.	17.4594	0.87616	0.0:0.0:1.0:0.0	.	634;634	P42263;P42263-2	GRIA3_HUMAN;.	A	634	ENSP00000264357:G634A;ENSP00000446146:G634A;ENSP00000360302:G634A;ENSP00000360297:G634A	ENSP00000264357:G634A	G	+	2	0	GRIA3	122389496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.423000	0.82170	0.600000	0.82982	GGA		PASS	0.433	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		128	93	128	93	---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129813618	129813618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:129813618C>A	ENST00000370927.1	-	4	466	c.445G>T	c.(445-447)Gag>Tag	p.E149*	ENOX2_ENST00000492263.1_5'Flank|ENOX2_ENST00000370935.1_Nonsense_Mutation_p.E120*|ENOX2_ENST00000338144.3_Nonsense_Mutation_p.E149*|ENOX2_ENST00000394363.1_Nonsense_Mutation_p.E120*			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	149	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.E149*(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CCACACTGCTCGAAAACTTCC	0.493																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(445-447)GAG>TAG		ecto-NOX disulfide-thiol exchanger 2 isoform b							187.0	153.0	164.0					X																	129813618		2203	4300	6503	SO:0001587	stop_gained	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129813618C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.445G>T	X.37:g.129813618C>A	ENSP00000359965:p.Glu149*					ENOX2_uc004evx.2_Nonsense_Mutation_p.E120*|ENOX2_uc004evy.2_Nonsense_Mutation_p.E120*|ENOX2_uc004evv.2_5'UTR	p.E149*	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			7	863	-			149			RRM.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Nonsense_Mutation	SNP	ENST00000370927.1	37	c.445G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795215	0.70452	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.46	4.6	0.57074	.	0.057909	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.8693	12.2268	0.54465	0.1708:0.8292:0.0:0.0	.	.	.	.	X	120;120;149;120;177;149;120	.	.	E	-	1	0	ENOX2	129641299	1.000000	0.71417	0.982000	0.44146	0.945000	0.59286	5.523000	0.67099	1.268000	0.44264	0.600000	0.82982	GAG		PASS	0.493	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		146	63	146	63	---	---	---	---
SOX3	6658	broad.mit.edu	37	X	139587162	139587162	+	Silent	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:139587162G>T	ENST00000370536.2	-	1	63	c.64C>A	c.(64-66)Cgg>Agg	p.R22R		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	22					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R22R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					AAAATGCTCCGCGCCAAATCA	0.627																																						uc004fbd.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(64-66)CGG>AGG		SRY (sex determining region Y)-box 3							11.0	11.0	11.0					X																	139587162		2192	4272	6464	SO:0001819	synonymous_variant	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139587162G>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.64C>A	X.37:g.139587162G>T							p.R22R	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	64	-	Acute lymphoblastic leukemia(192;7.65e-05)		22					P35714|Q5JWI3|Q9NP49	Silent	SNP	ENST00000370536.2	37	c.64C>A	CCDS14669.1																																																																																				PASS	0.627	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			10	5	10	5	---	---	---	---
MIR892A	100126342	broad.mit.edu	37	X	145078222	145078222	+	RNA	SNP	G	G	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:145078222G>T	ENST00000401124.1	-	0	39				MIR890_ENST00000401256.1_RNA|MIR888_ENST00000401186.1_RNA|MIR892B_ENST00000401279.1_RNA	NR_030584.1				microRNA 892a																		ACAGTGACATGTAGTGTAAGT	0.517																																						hsa-mir-892a|MI0005528																			0					0															200.0	166.0	176.0					X																	145078222		1568	3582	5150			100126342							g.chrX:145078222G>T			Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145078222G>T						MIR890_hsa-mir-890|MI0005533_5'Flank|MIR888_hsa-mir-888|MI0005537_5'Flank										-									RNA	SNP	ENST00000401124.1	37	c.40G>T																																																																																					PASS	0.517	MIR892A-201	KNOWN	basic	miRNA	miRNA		NR_030584		93	56	93	56	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153072196	153072196	+	Splice_Site	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:153072196C>A	ENST00000164640.4	-	4	678		c.e4+1		PDZD4_ENST00000475140.1_Splice_Site|PDZD4_ENST00000544474.1_Splice_Site|PDZD4_ENST00000393758.2_Splice_Site	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4							cytoplasm (GO:0005737)		p.?(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTCTGCATACCTCTCCGACA	0.607																																						uc004fiz.1																			1	Unknown(1)		lung(1)	breast(1)	1						c.e4+1		PDZ domain containing 4							129.0	97.0	108.0					X																	153072196		2202	4299	6501	SO:0001630	splice_region_variant	57595					cell cortex		g.chrX:153072196C>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.486+1G>T	X.37:g.153072196C>A						PDZD4_uc004fiy.1_Splice_Site_p.E87_splice|PDZD4_uc004fix.2_Splice_Site_p.E66_splice|PDZD4_uc004fja.1_Splice_Site_p.E168_splice|PDZD4_uc011mze.1_Splice_Site_p.E53_splice	p.E162_splice	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			4	736	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Splice_Site	SNP	ENST00000164640.4	37	c.486_splice	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130775	0.77549	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2141	0.82191	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDZD4	152725390	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.752000	0.85141	2.080000	0.62538	0.600000	0.82982	.		PASS	0.607	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512	Intron	23	10	23	10	---	---	---	---
TSPY2	64591	broad.mit.edu	37	Y	6114379	6114379	+	Silent	SNP	C	C	A			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrY:6114379C>A	ENST00000320701.4	+	1	116	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	TTTY23B_ENST00000451467.1_lincRNA|TSPY2_ENST00000383042.1_Silent_p.R24R	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	24					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R24R(1)		liver(1)|lung(4)|prostate(1)|skin(1)	7						TGGCGTGGGTCGGGCAGCACA	0.711																																						uc004fqr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(70-72)CGG>AGG		testis specific protein, Y-linked 2							4.0	5.0	5.0					Y																	6114379		312	932	1244	SO:0001819	synonymous_variant	64591				cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus		g.chrY:6114379C>A	AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.70C>A	Y.37:g.6114379C>A						TTTY23_uc004fqq.1_5'Flank|TSPY2_uc004fqs.1_Silent_p.R24R	p.R24R	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN			1	116	+			24						Silent	SNP	ENST00000320701.4	37	c.70C>A	CCDS35465.1																																																																																				PASS	0.711	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098313.1	NM_022573		14	4	14	4	---	---	---	---
NLGN4Y	22829	broad.mit.edu	37	Y	16953005	16953005	+	3'UTR	SNP	C	C	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrY:16953005C>T	ENST00000476359.1	+	0	2859							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.P772S(1)		large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GGATGACATCCCATTTATGAC	0.532																																						uc004ftg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2314-2316)CCA>TCA		neuroligin 4, Y-linked isoform 1							124.0	124.0	124.0					Y																	16953005		612	2004	2616	SO:0001624	3_prime_UTR_variant	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16953005C>T		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2856C>T	Y.37:g.16953005C>T						NLGN4Y_uc004fte.2_Missense_Mutation_p.P604S|NLGN4Y_uc011nas.1_Missense_Mutation_p.P792S|NLGN4Y_uc004ftf.2_Missense_Mutation_p.P465S|NLGN4Y_uc004fth.2_Missense_Mutation_p.P772S	p.P772S	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN			6	2566	+			772			Cytoplasmic (Potential).		F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000476359.1	37	c.2314C>T																																																																																					PASS	0.532	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893		20	52	20	52	---	---	---	---
RPS4Y2	140032	broad.mit.edu	37	Y	22930792	22930792	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrY:22930792C>G	ENST00000288666.5	+	5	462	c.462C>G	c.(460-462)atC>atG	p.I154M		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	154					translation (GO:0006412)	ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.I154M(1)		lung(2)	2						ATCCTCTCATCAAGGTGAACG	0.418																																						uc011nbb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)ATC>ATG		ribosomal protein S4, Y-linked 2							135.0	130.0	131.0					Y																	22930792		627	1969	2596	SO:0001583	missense	140032				translation	ribosome	rRNA binding|structural constituent of ribosome	g.chrY:22930792C>G	AF497481	CCDS44028.1	Yq11.223	2006-02-22	2006-02-22	2006-02-22	ENSG00000157828	ENSG00000157828		"""S ribosomal proteins"""	18501	protein-coding gene	gene with protein product		400030	"""ribosomal protein S4, Y-linked 2 pseudogene"""	RPS4Y2P		12815422	Standard	NM_001039567		Approved		uc011nbb.2	Q8TD47	OTTHUMG00000036540	ENST00000288666.5:c.462C>G	Y.37:g.22930792C>G	ENSP00000288666:p.Ile154Met						p.I154M	NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN			5	558	+			154					A6NIR6	Missense_Mutation	SNP	ENST00000288666.5	37	c.462C>G	CCDS44028.1	.	.	.	.	.	.	.	.	.	.	.	5.915	0.352838	0.11182	.	.	ENSG00000157828	ENST00000288666	D	0.88046	-2.33	1.47	1.47	0.22746	Ribosomal protein S4e, central (2);	0.000000	0.64402	U	0.000002	D	0.94105	0.8110	H	0.95504	3.68	.	.	.	P	0.45594	0.862	D	0.76071	0.987	D	0.95200	0.8316	7	.	.	.	.	.	.	.	.	154	Q8TD47	RS4Y2_HUMAN	M	154	ENSP00000288666:I154M	.	I	+	3	3	RPS4Y2	21340180	1.000000	0.71417	0.584000	0.28653	0.026000	0.11368	2.328000	0.43867	1.114000	0.41781	0.163000	0.16589	ATC		PASS	0.418	RPS4Y2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088873.1			73	37	73	37	---	---	---	---
SOX11	6664	broad.mit.edu	37	2	5833916	5833916	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr2:5833916delG	ENST00000322002.3	+	1	1118	c.1063delG	c.(1063-1065)ggcfs	p.G355fs	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	355					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		cggcagcagcggcGAGGACGC	0.736																																						uc002qyj.2																			0				central_nervous_system(3)	3						c.(1063-1065)GGCfs		SRY-box 11							5.0	6.0	5.0					2																	5833916		1939	3745	5684	SO:0001589	frameshift_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833916delG		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.1063delG	2.37:g.5833916delG	ENSP00000322568:p.Gly355fs						p.G355fs	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	1118	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		355					Q4ZFV8	Frame_Shift_Del	DEL	ENST00000322002.3	37	c.1063delG	CCDS1654.1																																																																																					0.736	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		11	6	11	6	---	---	---	---
USP19	10869	broad.mit.edu	37	3	49152898	49152898	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr3:49152898delC	ENST00000398888.2	-	11	1876	c.1558delG	c.(1558-1560)gaafs	p.E520fs	USP19_ENST00000417901.1_Frame_Shift_Del_p.E623fs|USP19_ENST00000434032.2_Frame_Shift_Del_p.E621fs|USP19_ENST00000398892.3_Frame_Shift_Del_p.E560fs|USP19_ENST00000398898.2_Frame_Shift_Del_p.E560fs|USP19_ENST00000398896.1_Frame_Shift_Del_p.E328fs|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_Frame_Shift_Del_p.E611fs	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	520	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCGGAGTTCCCGAGTGTTG	0.542																																						uc003cwd.1																			0				ovary(4)|breast(2)|lung(1)	7						c.(1558-1560)GAAfs		ubiquitin thioesterase 19							73.0	81.0	78.0					3																	49152898		2104	4247	6351	SO:0001589	frameshift_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152898delC	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1558delG	3.37:g.49152898delC	ENSP00000381863:p.Glu520fs					USP19_uc003cwa.2_Frame_Shift_Del_p.E328fs|USP19_uc003cvz.3_Frame_Shift_Del_p.E623fs|USP19_uc011bcg.1_Frame_Shift_Del_p.E611fs|USP19_uc003cwb.2_Frame_Shift_Del_p.E606fs|USP19_uc003cwc.1_Frame_Shift_Del_p.E278fs|USP19_uc011bch.1_Frame_Shift_Del_p.E621fs|USP19_uc011bci.1_Frame_Shift_Del_p.E608fs	p.E520fs	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1719	-			520			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Frame_Shift_Del	DEL	ENST00000398888.2	37	c.1558delG	CCDS43090.1																																																																																					0.542	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		40	21	40	21	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142758629	142758631	+	In_Frame_Del	DEL	GCA	GCA	-	rs1262686	byFrequency	TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr6:142758629_142758631delGCA	ENST00000230173.6	+	23	3854_3856	c.3378_3380delGCA	c.(3376-3381)cggcag>cgg	p.Q1127del	GPR126_ENST00000296932.8_In_Frame_Del_p.Q1099del|GPR126_ENST00000367609.3_In_Frame_Del_p.Q1127del|GPR126_ENST00000367608.2_In_Frame_Del_p.Q1099del	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1127			Q -> R (in dbSNP:rs1262686). {ECO:0000269|PubMed:12565841, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15189448, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.8}.		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AACAGTGGCGGCAGCATCTCTGC	0.365																																						uc010khc.2																			0				ovary(1)	1						c.(3376-3381)CGGCGG>CGG		G protein-coupled receptor 126 alpha 1																																				SO:0001651	inframe_deletion	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142758629_142758631delGCA	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.3378_3380delGCA	6.37:g.142758632_142758634delGCA	ENSP00000230173:p.Gln1127del					GPR126_uc010khd.2_In_Frame_Del_p.1098_1099RR>R|GPR126_uc010khe.2_In_Frame_Del_p.1126_1127RR>R|GPR126_uc010khf.2_In_Frame_Del_p.1098_1099RR>R|GPR126_uc011edv.1_In_Frame_Del_p.Q187del	p.1126_1127RR>R	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	23	3789_3791	+	Breast(32;0.176)		1126_1127			Cytoplasmic (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	In_Frame_Del	DEL	ENST00000230173.6	37	c.3378_3380delGCA	CCDS47490.1																																																																																					0.365	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			119	60	119	60	---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115931591	115931591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr9:115931591delC	ENST00000238256.3	-	26	3515	c.3398delG	c.(3397-3399)ggtfs	p.G1133fs		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1133					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTTGTGGGGACCGGTGGAGCT	0.597																																						uc004bgs.2																			0				ovary(3)	3						c.(3397-3399)GGTfs		FK506 binding protein 15, 133kDa							72.0	76.0	75.0					9																	115931591		2103	4216	6319	SO:0001589	frameshift_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115931591delC	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3398delG	9.37:g.115931591delC	ENSP00000238256:p.Gly1133fs					FKBP15_uc004bgr.2_Frame_Shift_Del_p.G570fs|FKBP15_uc011lxc.1_Frame_Shift_Del_p.G714fs|FKBP15_uc011lxd.1_Frame_Shift_Del_p.G1065fs	p.G1133fs	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			26	3516	-			1133					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Frame_Shift_Del	DEL	ENST00000238256.3	37	c.3398delG	CCDS48007.1																																																																																					0.597	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		86	38	86	38	---	---	---	---
PPHLN1	51535	broad.mit.edu	37	12	42836533	42836534	+	Frame_Shift_Ins	INS	-	-	A	rs143861840		TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chr12:42836533_42836534insA	ENST00000395568.2	+	11	1199_1200	c.1115_1116insA	c.(1114-1119)actgcgfs	p.A373fs	PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Frame_Shift_Ins_p.A253fs|PPHLN1_ENST00000337898.6_Frame_Shift_Ins_p.A318fs|PPHLN1_ENST00000432191.2_Frame_Shift_Ins_p.A318fs	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	373					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		ggcgaagagactgcgcagtcag	0.545																																						uc001rng.1																			0				ovary(1)|breast(1)	2						c.(1114-1116)ACTfs		periphilin 1 isoform 1																																				SO:0001589	frameshift_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42836533_42836534insA	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		Exception_encountered	12.37:g.42836533_42836534insA	ENSP00000378935:p.Ala373fs					PPHLN1_uc010skr.1_Frame_Shift_Ins_p.T317fs|PPHLN1_uc010sks.1_Frame_Shift_Ins_p.T298fs|PPHLN1_uc010skt.1_Frame_Shift_Ins_p.T252fs|PPHLN1_uc001rni.1_Frame_Shift_Ins_p.T317fs|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Intron	p.T372fs	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	11	1220_1221	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	372					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Frame_Shift_Ins	INS	ENST00000395568.2	37	c.1115_1116insA	CCDS31777.1																																																																																					0.545	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		145	89	145	89	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41075504	41075505	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrX:41075504_41075505insT	ENST00000324545.8	+	35	6317_6318	c.5684_5685insT	c.(5683-5688)aatcgcfs	p.R1896fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.R1896fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1896	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGTGAGAGAAATCGCTGGTATA	0.416																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			0				lung(3)|breast(2)|ovary(1)	6						c.(5683-5685)AATfs		ubiquitin specific protease 9, X-linked isoform																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075504_41075505insT	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5685dupT	X.37:g.41075505_41075505dupT	ENSP00000316357:p.Arg1896fs					USP9X_uc004dfc.2_Frame_Shift_Ins_p.N1895fs	p.N1895fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			35	6317_6318	+			1895					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.5684_5685insT	CCDS43930.1																																																																																					0.416	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		42	68	42	68	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	4924798	4924803	+	5'UTR	DEL	ACAGAG	ACAGAG	-			TCGA-66-2759-01A-01D-1522-08	TCGA-66-2759-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fecd0a2b-d176-438a-be95-306f453fde40	10b56aa0-ab28-49ef-9902-031c1694ada1	g.chrY:4924798_4924803delACAGAG	ENST00000362095.5	+	0	668_673				PCDH11Y_ENST00000333703.4_Intron|PCDH11Y_ENST00000215473.6_5'Flank	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCACTAATTAACAGAGTGTCAATTAT	0.267																																						uc004fqo.2																			0					0						c.(-68--59)TAACAGAGTG>TATG		protocadherin 11 Y-linked isoform c																																				SO:0001623	5_prime_UTR_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4924798_4924803delACAGAG	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000362095.5:c.-62ACAGAG>-	Y.37:g.4924798_4924803delACAGAG						PCDH11Y_uc010nwg.1_Intron|PCDH11Y_uc004fql.1_Intron|PCDH11Y_uc004fqm.1_Intron|PCDH11Y_uc004fqn.1_Translation_Start_Site		NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	668_673	+								Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Translation_Start_Site	DEL	ENST00000362095.5	37	c.-66_-61delACAGAG	CCDS14777.1																																																																																					0.267	PCDH11Y-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084980.1	NM_032973		18	25	18	25	---	---	---	---
